id subject predicate object category agent_type aggregator_knowledge_source knowledge_level negated original_predicate primary_knowledge_source ee07cce6-9f3d-4b31-81c9-1efefe60fd5d CLINVAR:586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 482985f0-89c9-4d25-a015-d273ee1a61a7 CLINVAR:586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeea7c41-6b98-43ec-8d06-c3574e6d9dc6 CLINVAR:102844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6016e1d-fa9a-474c-9940-25ef7ebb0207 CLINVAR:102844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 722b434c-3f5a-4f92-abe3-7e6d058d6988 CLINVAR:102736 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89955fee-30e5-49b7-b2d4-da52ef55fdd6 CLINVAR:102736 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f46d610-efcd-447a-92aa-2f99aeb033d2 CLINVAR:102705 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a206e3f8-4195-4023-9731-f5019c66ab95 CLINVAR:102705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3aba072-8332-4770-9c47-b35b739d0da8 CLINVAR:102518 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05dfca23-a251-4dd5-a9a2-89d4376e84cd CLINVAR:102518 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7978e4cf-2ae0-439f-b6c0-249b762a260e CLINVAR:102498 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4651cc52-c319-4f0a-8d3c-6cd5bc366661 CLINVAR:102498 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f405952-e628-4b9d-9b7a-664014bef3a2 CLINVAR:102475 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12497a3d-95fb-44aa-bee0-18db5e90e7f6 CLINVAR:102475 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76b298f9-db3e-48c4-acb5-d299240123e9 CLINVAR:92752 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45137bdc-b5c9-41f0-949c-6c94b171936e CLINVAR:92752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7ca2ca-efd3-434a-933b-118ae4e4bb92 CLINVAR:581 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b8b78ed-87ef-441e-a09a-2a2f59affda8 CLINVAR:581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f1e64d-d3e8-40ba-a551-10cc5a2ab28e CLINVAR:102693 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2037fe0-331b-4b16-a273-730c19a1978d CLINVAR:102693 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46fd6ef6-46ee-45fa-aff1-bd4b4a58dfab CLINVAR:102723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d41459f-e2cd-4de5-b3ea-26953b65bf3e CLINVAR:102723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e225ec-dd1e-4650-8e96-30d15bc5027c CLINVAR:92737 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8aca7a0-2b50-4611-9b27-bdbada565d97 CLINVAR:92737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bac32fed-7bbb-43ef-aef8-3b62a78df8da CLINVAR:102742 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 468152a4-1f7b-462b-9fe7-cf59324070b9 CLINVAR:102742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c94663-3756-4dc8-b0a9-5ed4fc9f8c22 CLINVAR:92746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5c7f25a-679f-4977-b5ac-2bed64acb957 CLINVAR:92746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 317b0b47-1313-4542-8954-74fd11074d4e CLINVAR:92741 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7dcd8e2-afa7-4717-9296-198ccf141dac CLINVAR:92741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 594dd5e3-d278-465b-a447-e73fd44bfd3d CLINVAR:306914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9796205-51af-4d9b-91f5-22d8e64cbb74 CLINVAR:306914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95a08644-4e0f-45b4-b80c-f66288b6d421 CLINVAR:102703 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5d18624-66d4-4063-91f5-c98e855f360e CLINVAR:102703 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b31b75e9-4cbf-4ef3-8e2d-b7b3791cf88f CLINVAR:102687 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e472ba0b-4f5b-46ee-825b-3bd8fbfe2c91 CLINVAR:102687 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf8e608-b7b0-4342-acf3-faa32633f34a CLINVAR:102716 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f91f6aa-37b5-461a-8e7a-dce4cac9206a CLINVAR:102716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f3e95b1-de34-4c7a-bc11-a96496f32c97 CLINVAR:102601 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7b710e7-8174-4299-8410-cae79e7c503b CLINVAR:102601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df42c2c6-af47-4ca8-bf9b-1d6ae61d1b0e CLINVAR:102729 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 377c9434-99ae-4051-aa2c-59c0c04cf05e CLINVAR:102729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a241516-f60b-4b6e-b464-1a0b716c7b62 CLINVAR:102871 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68f6c4a2-4096-4600-816a-88a08efa489e CLINVAR:102871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d9c0e6-f798-4093-a494-bcb789ae429c CLINVAR:92743 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43bc8d8b-c23d-4699-92ad-4f09744dc6b9 CLINVAR:92743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0c4223c-14e8-4966-b605-ae4c23eeb509 CLINVAR:102706 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ef066fa-974b-4e82-a087-8f4dccca8604 CLINVAR:102706 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798702d8-4786-4fac-b96c-bb80b97e261f CLINVAR:120273 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91d42c61-6919-4f93-8a16-29850d868b50 CLINVAR:120273 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0809c076-5833-4e7a-90ac-dba0df7ec945 CLINVAR:92729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fab9d9b-4e10-4bd3-a4dc-9244da256e05 CLINVAR:92729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f7c40c4-4c40-4f47-96af-ea6dd567ad01 CLINVAR:598 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98f61ce4-c559-408b-bbd8-0a78b7c62eb1 CLINVAR:598 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b1fba9e-8a79-4cb0-a191-a392df52597e CLINVAR:636 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f7b9ff3-3a65-45d2-9e8f-2077064d3400 CLINVAR:636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf52886-c49d-47dd-a63b-54d8ee29f55e CLINVAR:120287 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6d50258-8ee6-4d4b-84d1-f5740752a4f8 CLINVAR:120287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fed44b0-3b00-4d94-9508-837fa88e3ef0 CLINVAR:92740 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89655411-928a-4be2-8fb6-1c2b196082d7 CLINVAR:92740 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcbdb407-e4c1-4568-9933-0f0e39faf364 CLINVAR:120271 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ef380ba-92f3-4320-af94-7b54ed371a7e CLINVAR:120271 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1acda60-7850-443e-ae45-c42242d89991 CLINVAR:225135 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28b51798-c624-428d-b6b7-9d82a73ade7a CLINVAR:225135 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a11c3931-7072-40a9-98c7-eb5bf417c8d6 CLINVAR:102821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd008456-f392-4eb3-8e0a-5ee6a1b011ff CLINVAR:102821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2004b3bb-129b-4718-acf9-b2ca38427a13 CLINVAR:603 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 216ac78d-eeda-44fc-8739-0617a767044b CLINVAR:603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99aafb11-451c-40ad-96de-50648093e883 CLINVAR:599 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c694102-4987-4bcb-bdc4-189c16b115c2 CLINVAR:599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 174475f3-089a-4d4e-a685-7ba4a0df6dd8 CLINVAR:632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31748237-c821-4af6-8dcd-2012f5a96536 CLINVAR:632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30658fb7-eb87-4b10-9d02-db2f28302501 CLINVAR:102483 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6e2857b-23fd-4dff-8510-ae6efcd79075 CLINVAR:102483 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 506782ce-3eff-43d3-9fa7-1bf08371ab78 CLINVAR:102557 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfff159a-f9d9-4c5b-865a-c84586c3851b CLINVAR:102557 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68edc3da-9bfc-4cbe-944c-7d2eb4b7833a CLINVAR:102696 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9d58009-8051-4e5f-92d1-58012d9dc760 CLINVAR:102696 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77841348-1dae-497c-ad03-100d08088aa9 CLINVAR:102913 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a91e9770-77e2-4cf8-9b4d-fe6682004a70 CLINVAR:102913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0efd5c33-53b3-444f-9973-19ce8bb61f2f CLINVAR:281073 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2134a1e8-fa20-4cf1-91d1-b7136a54f2c6 CLINVAR:281073 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cffa75b0-1fcd-40f2-9c23-0c925b749896 CLINVAR:439228 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9c78b95-dafd-48dc-9f3f-72ce849777f7 CLINVAR:439228 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb671e4-8c85-4557-9464-cd6326fc67cc CLINVAR:92742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9791ade2-827b-4e18-bc52-f97da016e4ec CLINVAR:92742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ebcc740-29ce-4493-849b-718d0bdb23ae CLINVAR:577 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e20c4246-f51b-4081-a594-db5983caf171 CLINVAR:577 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d1d182-8782-4f75-b53e-0541bb372e3d CLINVAR:596 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26142ea9-0c85-49e3-9306-8413da85b733 CLINVAR:596 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a67d341-303b-4f6d-947b-35175733ee36 CLINVAR:102650 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 232e9cc9-2051-4bac-b123-8a9c69b44729 CLINVAR:102650 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccac450a-f25b-4e4e-abef-00dc0e41d4cc CLINVAR:607 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d7ecbec-e87b-4826-a66e-6460a4c435fa CLINVAR:607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 439fcc58-e34a-4ce0-9d47-fc982628f49e CLINVAR:617 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35425411-0c23-470a-af08-00cac7a3596b CLINVAR:617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bfade8f-9b21-4c8d-a0c1-5878daa094c6 CLINVAR:610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6bf1ba7-c808-413b-be63-9879cb8ed981 CLINVAR:610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a31a2d1-00d8-4895-b5df-81fc548df6c9 CLINVAR:576 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cc9a83c-468f-41b3-ad4c-7ed64670dad8 CLINVAR:576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 402be883-eabf-41a5-9a27-008adcb92bbe CLINVAR:593 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f11940fe-809b-49c6-b448-0a45cdfc0683 CLINVAR:593 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af2bf57e-a2e4-41ef-9dce-605961b3a44b CLINVAR:582 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8ea3838-5575-4d3a-9edf-d24ef501ef37 CLINVAR:582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f6dfbdc-332a-49dd-8f47-0de17b6f2010 CLINVAR:592 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53e20114-cf70-42c6-9f25-599050a07f9e CLINVAR:592 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d2240b-14c9-4413-ae47-5d4fdf37c0bc CLINVAR:102632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc6b7286-4e6c-401e-aea6-ac645bf0923a CLINVAR:102632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 013edfb8-39d9-4262-b6ee-da782950781f CLINVAR:612 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5c55f0c-2daa-4f35-a1be-f2b3456c549d CLINVAR:612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f03575fe-e22e-4ad2-a157-a71d68854336 CLINVAR:376937 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 320e0a06-352d-4e58-bae9-bfcc855331f0 CLINVAR:376937 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda1d48d-134e-4440-905a-0a3be4dc7f4c CLINVAR:619 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a51b8c0-ae93-4b62-82df-d1580f09afbc CLINVAR:619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6e191fb-7005-4e14-9b0e-64662a1c56f8 CLINVAR:102784 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b03acc7d-b6ec-4d9e-9a35-5c826ec58548 CLINVAR:102784 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71063f11-c7b8-44e7-9e93-224bb37f542c CLINVAR:628 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42db8f76-b705-42fc-9ff0-ae17e6bf5fa9 CLINVAR:628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cddeeeb-2044-407c-aed4-bdbeeb22c81c CLINVAR:594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92d4c89a-461f-43e9-8c78-10eaf8bafa90 CLINVAR:594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b935b12-6609-436b-80eb-053add7aa1a8 CLINVAR:102803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3511383-0c87-4e08-b13c-8f3f3adf1693 CLINVAR:102803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a3e2e99-3ee1-453b-84f4-fa9f67fb2d74 CLINVAR:102804 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d620fe9-ff3f-424e-87fa-a5f56292cc86 CLINVAR:102804 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e50f1cd-b0d2-428f-9912-e7c10852b1d3 CLINVAR:92731 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87e6bb7b-071f-4063-9a06-ec757a05e63d CLINVAR:92731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7cc6d3e-d2a4-4e22-b34b-aeef3ae71ee2 CLINVAR:601 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4df4310-c0a0-461c-93ec-e31e6b24f185 CLINVAR:601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ae5efa8-c5e6-4606-89e3-6c41fb06d3af CLINVAR:625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 625b42f1-f02c-448d-8cf2-56ba7bf4d943 CLINVAR:625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b13674fb-c248-4290-8292-fbb326107125 CLINVAR:92751 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a9814c2-a63d-4ac3-b7da-6049a5b8aede CLINVAR:92751 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0a190e9-ed8e-420c-a428-fc339bf93249 CLINVAR:588 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64b1c50f-e0a6-49ff-9b25-63910c801a4c CLINVAR:588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6bc4149-8139-4a83-9309-9780d9e5095d CLINVAR:584 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1512f467-3ca0-4839-b96b-31f88a75568a CLINVAR:584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab970466-e837-480f-87f0-20821ce0f306 CLINVAR:102824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30c08a23-8a1f-45d8-b359-cbc4e14f9fbf CLINVAR:102824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d871199-a90e-4177-baed-6dc252c122c7 CLINVAR:92747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 725b8e82-cedd-466e-b860-6b158958e427 CLINVAR:92747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 102925bf-d52a-49da-8f3d-e83d712c401a CLINVAR:92753 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53e5abc5-eb29-4263-934f-8c67ce683d22 CLINVAR:92753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 082955c5-2f7f-4df9-8e82-393ab641307c CLINVAR:618 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c013517-b498-4cf7-973b-26c0c3173447 CLINVAR:618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d80cdf-ef55-43c9-bd5c-c02aac305ecd CLINVAR:102720 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50f9313d-afe7-4e3e-9be1-7f410ae14bfb CLINVAR:102720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9acdff57-017d-4a0d-bcb4-370a4262aa68 CLINVAR:92744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0405218-dcdb-4404-bd68-0821ce054e17 CLINVAR:92744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4821d2a-05fd-4afa-8a19-29b0eef00f35 CLINVAR:102698 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77e86d35-3944-4aa2-b8de-1e6d2ca6bbd2 CLINVAR:102698 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581f08c9-fd83-4fff-ab81-171f3051ff3d CLINVAR:595 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc951c1c-a9d6-4bcd-b7ca-3fcb8c70912a CLINVAR:595 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64267838-0d4b-4968-bcc6-9dd96f06fd94 CLINVAR:142269 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 622005a6-8273-463c-853a-d62057120044 CLINVAR:142269 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d35c7720-5e08-436e-a074-cc145ec2e97c CLINVAR:185989 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 051f5d3e-8089-4dc1-a40d-9d30cacda611 CLINVAR:185989 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c12f1f07-b58a-46cf-95ef-15ec3b2643df CLINVAR:142681 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5be28d68-bcf6-4e29-bfbe-248d74cdfcc8 CLINVAR:142681 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58602ff6-5331-4f07-9f49-a8d834d01a1c CLINVAR:127687 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc099a64-f922-444f-b175-ee122ebf4c37 CLINVAR:127687 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d729e7-87d1-49ed-aa9f-70732ef8a5be CLINVAR:187673 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 603024b2-ff6e-42bb-9db4-ee3d74c49ba9 CLINVAR:187673 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 473f34d8-422d-4178-8081-1f67f2e7b856 CLINVAR:7844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c049b05b-1dac-465f-9f3f-c790c8d0b1c8 CLINVAR:7844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f020cefe-b97f-4d10-8561-dc24913e799b CLINVAR:404147 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2046e67a-b286-4f00-8660-5d817400daa6 CLINVAR:404147 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a25a01-9edc-48b2-b3ff-db4199cd3e30 CLINVAR:184104 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1a40058-2fee-439b-988c-498b675e2e1a CLINVAR:184104 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93f3b186-846c-4a7a-9a9f-ea86d2ebaa88 CLINVAR:187590 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f37b5619-e109-463a-aa04-0755b6abdfda CLINVAR:187590 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34d62b72-b27b-4888-9afc-493cec913896 CLINVAR:189462 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e895bff5-1328-4cd8-a311-403c24c104bc CLINVAR:189462 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b61fd233-b923-4d37-a17b-f4a96f941b32 CLINVAR:189441 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72f5866d-9b3c-44c5-85cd-6070c990d959 CLINVAR:189441 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9118d377-ccee-4cae-bf65-2792b12fe5f1 CLINVAR:187657 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64592905-2e52-4c32-8369-0ecced9208a3 CLINVAR:187657 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b15bf90d-4263-4ee3-afd6-04b1692c0350 CLINVAR:185213 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb91bcc0-484a-4552-afbc-6e533dfaaf32 CLINVAR:185213 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1776aa8-5f37-4d79-9dc8-ef47ab1be193 CLINVAR:189411 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8913431f-7bdd-40db-a2e2-fab9b8519140 CLINVAR:189411 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adfb0120-52ff-403a-a94e-10cf8abc337d CLINVAR:141654 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1465d70f-d5ac-4907-80ef-b9117ca3e34d CLINVAR:141654 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62f87aa9-14b4-4ae7-99bc-22c8421ffa7f CLINVAR:141485 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29a97a0f-b5b9-40c9-884a-fdbc401155d5 CLINVAR:141485 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c25589a7-b3b3-4d4c-b24a-3d0a1843f690 CLINVAR:220007 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36963b01-87ec-4585-95d0-cb9780c6e86a CLINVAR:220007 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a733c32-7d76-4733-8ac8-f70e4b6cb776 CLINVAR:404140 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b310b0c-1b9d-4a2d-892e-9e37d8b3ed29 CLINVAR:404140 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b6d952-846e-437b-9764-e133cebae393 CLINVAR:92816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42e81859-9758-4d17-b9f3-7f2453920105 CLINVAR:92816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ee98c9-0594-45fd-a152-c633ffe4eba6 CLINVAR:142423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e57679e-8b10-4e45-99e1-9777836408e1 CLINVAR:142423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6327bfc-67c0-41f3-8637-dc5e636cd78f CLINVAR:183722 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf7b3f19-7f06-448e-9e16-c4e17d243abe CLINVAR:183722 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a2b68b-fe3a-4cfc-98c3-0671a78be08f CLINVAR:231916 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbae9d3c-2c5e-4fdb-b599-f7292d826019 CLINVAR:231916 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1aee9eb-3ef9-4342-b857-09f716f86288 CLINVAR:7829 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1d23a2d-a643-41c9-96c1-4eb264f815a9 CLINVAR:7829 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df2ad69f-803b-4264-8d72-06825cff7027 CLINVAR:189406 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d19408c6-7459-41e5-8312-db0bab4e015d CLINVAR:189406 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2462627e-0ad1-4517-8f11-273934731c7b CLINVAR:189500 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ff8882f-eaa3-4a95-9d90-200701f7ac6a CLINVAR:189500 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf4e52c-81f3-4388-92bc-63ebc7034d83 CLINVAR:92822 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7cb4cd8-97e4-4c52-8983-f61102ee826c CLINVAR:92822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b0532c9-1442-43e5-b318-34fde0c31097 CLINVAR:127674 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0201b51-1bae-49ae-b39e-3579800130f1 CLINVAR:127674 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3c91400-f691-4962-8c95-6613e1337c91 CLINVAR:189424 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1049c4ad-1dae-4f7f-b8f9-d1935b8bb796 CLINVAR:189424 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e72d6f-f4ef-4e85-94fa-0bf7b0ad7f9e CLINVAR:7824 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fec4e0c-53d2-469f-b596-be9043745a5c CLINVAR:7824 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73f96b64-5bf2-43cb-8f7c-57699c8f5704 CLINVAR:7814 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 692c1096-5a3a-4f9d-abd5-cdb36fc0c9c8 CLINVAR:7814 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476ca383-1c59-4f9e-b4f0-917e19340e4a CLINVAR:7834 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc78c7ac-7331-41be-a6f4-c012466e2fc6 CLINVAR:7834 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eae8e2b-d277-4800-9aa0-d000082c302d CLINVAR:7815 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2e69606-61b0-4fa4-b7a6-a63b5b531577 CLINVAR:7815 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd314371-a2da-4015-b815-72bc98e36322 CLINVAR:7816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ca27317-55eb-4a23-831d-65edb13c5971 CLINVAR:7816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc482d56-89d4-4ebb-b0a1-e9dfea9c6a88 CLINVAR:142220 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32d110cb-5199-49e6-960b-a70861918966 CLINVAR:142220 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84f24af6-78ef-481f-bd71-68310d830182 CLINVAR:6613 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f6179d7-8540-4b93-a3cb-d02b1bee2d6c CLINVAR:6613 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 670a8d12-ba0f-44f6-af1a-e185190ec4da CLINVAR:585322 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f8b0e2e-e40a-4ab8-b17d-ee58265b6616 CLINVAR:585322 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b05a6775-fe26-4e6c-9cec-a044082a9b4b CLINVAR:585327 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e55c7c97-0087-48d0-b13c-71367041ca55 CLINVAR:585327 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c88850a6-3fdd-4358-896b-f94058c995c1 CLINVAR:17014 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 180bc18e-d8f0-431e-a0bf-41e6b3e64c39 CLINVAR:17014 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519e545d-9530-433b-80db-ea40907aa592 CLINVAR:505302 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 893aaf1f-58ea-4047-9743-da798b706ebf CLINVAR:505302 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5158cc2-8e65-482d-8807-d6130bc515a1 CLINVAR:17004 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26a01425-6ec9-4fbb-ba13-e79600038d6d CLINVAR:17004 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3390ccbf-a0a9-4cc5-b5c4-a66b83bb39b9 CLINVAR:44740 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c013b212-f7ce-409f-b185-c2f1f59455fb CLINVAR:44740 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77bb961a-3b6a-44c6-8527-07dd030c4072 CLINVAR:177859 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da1a9704-9012-487f-aa9d-6b5c34119980 CLINVAR:177859 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a52cb2-df0a-420c-b9bd-51f3b015ea3f CLINVAR:506273 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5af002bb-449c-4a72-86f8-418e7ccdb61d CLINVAR:506273 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 640da534-2fe9-4d54-b046-87db414e97f3 CLINVAR:166499 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96e4aa26-d662-4af9-9413-e1dcec160924 CLINVAR:166499 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154d601c-df67-4a05-a7f8-9952f59a5032 CLINVAR:198366 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bb8a79f-1693-4337-97e3-4bcb8b2573fd CLINVAR:198366 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07eb355f-1ff5-418f-a532-c521a42d1a82 CLINVAR:43546 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6462a33e-ca99-42ff-8dd0-7872f4773959 CLINVAR:43546 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd1eab15-4cc2-4c2b-b9dc-3db30b6f8f2c CLINVAR:179542 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 212d767f-2cd9-4797-b103-e76e256d4d1d CLINVAR:179542 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc763a9f-2c5a-4c88-92b2-6a67bddd9660 CLINVAR:517357 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dccbc449-1b99-4a29-b4e1-a8c09e10c35e CLINVAR:517357 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55b177f3-3a06-4c76-9b95-c1dced09a344 CLINVAR:178957 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 465d95f3-2015-4bdc-a2f7-e03a5a34277a CLINVAR:178957 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6abb4f0-f5a4-4bcd-a6dd-b9d3d6ace9f8 CLINVAR:228491 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a903c85-71f6-4ce6-b4b0-0b1228482d42 CLINVAR:228491 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05f52ae6-bf8a-4cb7-b0a1-bb2a4e7c35a2 CLINVAR:161326 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 514c7f38-1b88-4394-a2d3-bf14200982c8 CLINVAR:161326 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b22be02-6ed9-4279-9df1-ec4efa28243c CLINVAR:43085 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebecc9c3-f1f7-486c-85de-7c6813e3debf CLINVAR:43085 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 546bf315-f442-4565-a373-b043019710b0 CLINVAR:43029 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0177a50-5b58-4caf-8721-d91331566d39 CLINVAR:43029 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ba48cd2-7011-4de7-a7ec-9767dca15b14 CLINVAR:42965 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7552bc48-b0fd-4ee6-9944-6ec33a2f0c08 CLINVAR:42965 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37fa9600-174c-411a-abbf-87bcf89a1f31 CLINVAR:43011 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be88c210-3968-45b5-b17a-02cb1f65f328 CLINVAR:43011 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf53b96-07e6-4554-bfce-f45f07fe511d CLINVAR:43005 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9ec58a9-3e71-41bb-b9a6-59a267a67d71 CLINVAR:43005 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901af364-1abb-48bb-a12a-c18ddc616e40 CLINVAR:43003 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28cf5dde-99d3-4683-96d1-05dcdd30262b CLINVAR:43003 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52c7a9cf-3255-4233-9b21-590efd00cd67 CLINVAR:42992 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35197708-6be9-4489-9d5a-40052583b030 CLINVAR:42992 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b80c4dc4-a808-43ec-aa28-20e6ea2dd601 CLINVAR:164294 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c70bf0c-a1cf-4a1d-834f-07b714ef3293 CLINVAR:164294 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88edc441-0eec-4f9e-a29a-4c637caa7e53 CLINVAR:43088 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1332a8ce-7aed-45fd-9aee-0cc6a77dc4cf CLINVAR:43088 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be1e25bb-30ff-4bbd-8676-1cc69e34034c CLINVAR:42968 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6e13594-1ca1-4c85-9163-35df2f551d6c CLINVAR:42968 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f1cbece-5ab2-47e5-bebd-556c5bb9b2e9 CLINVAR:42950 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a8dbee7-aedc-468a-b631-df883bf17ffd CLINVAR:42950 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f36f6b5-5847-4e88-84d7-da08076c489d CLINVAR:155814 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fff21837-c434-4dcd-b296-0923d5bae03f CLINVAR:155814 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8b10ff4-311c-459e-87ce-3bd2a8b8f779 CLINVAR:177753 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5896f1b1-f7ed-4673-aac8-6f793663a75e CLINVAR:177753 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463811a8-a1fd-4626-b8a1-b17db75ba592 CLINVAR:42934 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12bcfc5c-6b64-4158-829f-e15164619e8c CLINVAR:42934 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a12b1014-2323-40db-b958-6876eac147a6 CLINVAR:14097 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f945f96c-7eac-46c9-b31e-63db28cea700 CLINVAR:14097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d431348-97e1-4cf8-8f28-9fad7f5f8cb1 CLINVAR:14125 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae3fba34-dc1b-4952-bd39-d17af72ee2ea CLINVAR:14125 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e96264e-08d0-42e1-ae71-ff1210281683 CLINVAR:42922 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ffedc54-bceb-4f0f-8b49-3c6c827bb9e0 CLINVAR:42922 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cadd437-bb50-43b2-a8e4-74776e72adcc CLINVAR:14120 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29739417-971a-4980-b67c-59618d4d3d17 CLINVAR:14120 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 504de29b-313f-407a-8645-3511297990dc CLINVAR:177757 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ac44729-a2e2-4ef7-a641-0cca126b2baa CLINVAR:177757 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c1ea7e-0451-416a-84d4-3cc0a8b848e0 CLINVAR:42913 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4caf5ce6-c532-407d-86d5-4a5a8d228f3a CLINVAR:42913 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d84d100-af58-4bd0-b10a-f3ded32ea49e CLINVAR:42910 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b4f49b4-87fe-47f6-841c-e8f62a1a175a CLINVAR:42910 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55dc7d64-7d68-41f4-909b-0310e313d750 CLINVAR:177665 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e08b408-3c9d-499f-b484-46fff06ad4ca CLINVAR:177665 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9867fab-738e-45b4-9764-32b2b77ff7a8 CLINVAR:14098 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 608b65fa-e1db-4662-a37d-7f550096eadf CLINVAR:14098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb8c0dc-64f8-41d2-8826-8333ca56e088 CLINVAR:164342 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 303b87ca-9e12-4505-acef-4231c60718cb CLINVAR:164342 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85428f74-0613-459d-a555-04d2564f2655 CLINVAR:14095 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9e6343c-ea03-4004-8bcf-61b63ea5199a CLINVAR:14095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17689a74-f37c-4be7-b802-963b4dadd6ec CLINVAR:42885 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6339b80b-a1f6-43de-80de-d87f288991eb CLINVAR:42885 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 675d6e79-60ee-4f96-8113-4333214a50ee CLINVAR:43076 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ac221de-461e-4dc4-b110-357d0aa77c2a CLINVAR:43076 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef05efcd-9c08-4211-b73c-66ab87fb65e5 CLINVAR:43069 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75069bb5-9523-49f6-a13a-122d44a11f03 CLINVAR:43069 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9485972-65bd-46cc-b186-6e60241175f0 CLINVAR:177697 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f63900c-aba9-4124-aeff-4be951bbdb57 CLINVAR:177697 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bc33b8f-eeab-4002-b6d8-8a3b79869cbe CLINVAR:177629 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10a5ae69-509e-4dbb-8998-c6a3a3e172ae CLINVAR:177629 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcdb5f53-c363-4cfd-a03f-69efa1157654 CLINVAR:43059 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02176096-30fc-4aed-882b-b6cef0c5c144 CLINVAR:43059 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ea9401d-2782-4ea8-a3b2-aa47ec0325de CLINVAR:14107 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c086c9c-c84e-40eb-8f1e-b190a7838aa6 CLINVAR:14107 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe13c573-446f-4c27-a934-596f566bc57a CLINVAR:14104 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d0f9f7a-6351-492b-8a4e-9d02d92bb24b CLINVAR:14104 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de38a42-77db-4ae8-9bec-a507f0bdbcd9 CLINVAR:14105 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a6d7aba-cc00-4208-a8a7-6ccc4d9e2e89 CLINVAR:14105 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7dfef0c-3849-4cbc-a1ab-c66efed5304b CLINVAR:42875 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2b84730-478c-442d-8441-a0be8323cee7 CLINVAR:42875 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dbea874-f4c4-44fc-a3e2-4c0720cf94da CLINVAR:14090 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7fd501f-0371-42cc-b8fb-4e3b065ccaac CLINVAR:14090 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e156893-8824-42b2-97d4-b6caf97c64a9 CLINVAR:14108 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43cd6844-5300-4642-9a27-d32d0e4c9173 CLINVAR:14108 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae872fb4-51c2-4498-8cb3-07e21a0be99d CLINVAR:36642 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b9e5cc3-095b-465e-bf2f-db03f909ef27 CLINVAR:36642 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7211b378-cd87-4c3f-b911-2d860dff93d7 CLINVAR:177817 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3f683ce-af78-4d58-bf30-aaf510429d62 CLINVAR:177817 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e166d1-6ee1-4c4d-8123-ceda643314fa CLINVAR:14087 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 788d8edb-5dc7-4b26-8240-d44c475c059a CLINVAR:14087 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc27131-34e7-4c9a-b9ee-585fa58beb1a CLINVAR:14102 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1eaa17fc-33b5-4397-a73a-2eca319dec44 CLINVAR:14102 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c228336b-88a4-4249-8c7d-d770fc88bb58 CLINVAR:42838 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49b2ccf9-8c03-41f7-acc3-14e24234fe63 CLINVAR:42838 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4586e935-5550-442c-bff8-8b48fe23d42c CLINVAR:164378 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd3c69bc-110f-4fd0-ac73-3a62bfa2595a CLINVAR:164378 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68cb550e-30b5-4bda-a407-2bc2bc04e8d0 CLINVAR:42822 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ed6c1fc-d841-4087-a7de-2e1103d01ffa CLINVAR:42822 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2fe5ec-02b3-4e6d-9d89-c28c2186496f CLINVAR:43106 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22d01187-f338-4ef3-b5c7-ed8c598fd82e CLINVAR:43106 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9192d6c6-e03b-4553-b033-fff68eaacbb8 CLINVAR:43006 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e12654b0-ebf3-47db-8d6c-6e334e17cb3d CLINVAR:43006 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 502d43ef-bcd0-4efa-97ba-e287ef3be321 CLINVAR:40649 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11c01e20-b594-44f1-84d2-f34a6d1fe4d4 CLINVAR:40649 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 500ef646-2ad0-42b4-ac8d-982873adbf04 CLINVAR:181528 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 883e4ae6-58ce-4d0d-b730-401e831e32a2 CLINVAR:181528 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea61838-3236-4907-953c-8b612e7b5d42 CLINVAR:40634 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b80425d3-f450-45cb-87b1-7f27f77ff542 CLINVAR:40634 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 834cfd92-68fe-47d2-9ea3-5720523fb70a CLINVAR:6821 biolink:causes MONDO:0054637 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e12d543-ef36-4b73-93ea-d84cf59949f7 CLINVAR:6821 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36cadb1b-ae7a-406a-876d-3d6a0cec76d4 CLINVAR:40601 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3144878-566f-4247-91dc-57b4951cbb30 CLINVAR:40601 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f00d88a-7b4e-4566-a6f3-a4bcb2fa1711 CLINVAR:40607 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb7a08ac-fff1-47a3-9819-0660f60b1046 CLINVAR:40607 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53ed6d37-5d12-4e32-9278-897ad3960676 CLINVAR:40600 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d9f0213-dc93-412a-b3e9-575399738833 CLINVAR:40600 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c3dfd78-9bae-4324-b894-e519afde51d4 CLINVAR:40613 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0753705-e9ad-4973-9028-a5754b6474eb CLINVAR:40613 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcc88907-74bb-4828-ae6f-a4bd9172503a CLINVAR:40614 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c66c76a1-25f8-49dc-8b25-c4fb196ab675 CLINVAR:40614 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d5d831f-aa7f-4b37-8983-23236daf5ee4 CLINVAR:40520 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f07026d-6432-45e1-8f36-438efcac87b4 CLINVAR:40520 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc414079-36b9-4015-ba73-d7aa3c13febf CLINVAR:40567 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8297c2bc-f27f-4a2a-97ea-76a88951b254 CLINVAR:40567 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f8b3147-6783-4910-886a-ccf63ed9490e CLINVAR:40522 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 283df331-b934-45d4-b526-567002a49619 CLINVAR:40522 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 458e747b-fbb9-48ea-af39-714ee95f0a91 CLINVAR:13344 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 751a5247-5721-4f9f-8e19-4c99026cfb00 CLINVAR:13344 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 794a14b7-30f6-42ef-947d-70feb4733b77 CLINVAR:40504 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de0db317-6902-4f34-a095-a2d1f401b495 CLINVAR:40504 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d8b7ad-492c-41e5-8a70-0b8348cc8da0 CLINVAR:40484 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20adc5e6-acf5-4c59-b715-50c560030dd8 CLINVAR:40484 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceeef903-0c54-4b7b-a823-991306cf66ad CLINVAR:46242 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19a97c2d-7851-4f66-b411-0c76821b2693 CLINVAR:46242 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd72d0dd-0343-47c4-9d1d-3db8ee803f7f CLINVAR:40786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab4d3226-365a-48a7-b1a8-a27e270744e3 CLINVAR:40786 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59870203-6d0a-4324-8c56-8208d8e32170 CLINVAR:40813 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a59d5edb-9921-4c7c-a11b-a6b51ad735e9 CLINVAR:40813 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87451cc5-132a-44c6-8ac8-51bf1ae090b6 CLINVAR:40779 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 205b4563-3d82-470c-aeb2-85d21d23a5c4 CLINVAR:40779 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2490dd30-868f-4bfb-8295-94223a54adc1 CLINVAR:40452 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e69b2bde-3894-43a4-b587-46d841ec1968 CLINVAR:40452 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 056b26e3-5334-45fc-be5c-0c67219782e7 CLINVAR:12594 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0061989c-3b2b-46f4-8c83-9632da8c9e87 CLINVAR:12594 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99689128-a107-4407-bc28-ec9c41d0c220 CLINVAR:40435 biolink:associated_with_increased_likelihood_of MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b30af67-a9d1-4866-b567-8009ca5ef400 CLINVAR:40435 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5b2a245-19cd-4982-9c10-7e66e4a4ee5b CLINVAR:40439 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45d5b6c4-ac33-4e3e-aab4-0cd818622ce7 CLINVAR:40439 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9580f00c-3fb4-4292-9329-657ae6423009 CLINVAR:177672 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a71d2860-e86f-4fd1-a0b0-d3ee2ae46f3d CLINVAR:177672 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c6fc089-b1ec-4b95-bd2c-147cebe34925 CLINVAR:40380 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29a26179-8a62-4bf5-a268-e3295f27353b CLINVAR:40380 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdac08d3-9f4f-4c3d-b634-311abec46b27 CLINVAR:40387 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd145d15-24c7-4056-a0ba-1c43e27df68e CLINVAR:40387 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0104d876-2aa2-4cd1-b8ea-b0f84f80c01e CLINVAR:12586 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c03d3f9d-56f3-499b-a497-eba2e0edfa83 CLINVAR:12586 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dadd142-b459-45e5-b432-d39037f3527d CLINVAR:40454 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a1adcaa-39c3-4384-a7df-71539ac75af6 CLINVAR:40454 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 302e63d1-2010-47f9-9ec4-8d41b0465587 CLINVAR:12587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50b1b49b-6601-4abe-876e-52d036d4e838 CLINVAR:12587 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14831449-40b6-491f-b7e0-fcc7c561d1c7 CLINVAR:12588 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df1ddc96-e728-43fe-a695-43204ca9514d CLINVAR:12588 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac2dad44-aa6b-47b0-9033-a5f164edeba5 CLINVAR:12589 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94d3724c-de1e-4826-b2e6-b0120bad842b CLINVAR:12589 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9df9b6f-a4da-4822-acae-73db92536894 CLINVAR:12610 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48ada19a-8165-44aa-b8b1-5aa4dee5451d CLINVAR:12610 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e7e8ccd-5a41-4085-9da5-54fdd2cc0f4a CLINVAR:12602 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5c36ce1-8bfb-4373-ae2b-0c8791ae5275 CLINVAR:12602 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d4807d1-10f6-4013-b505-2e3801a9f482 CLINVAR:12605 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9e9dfaf-7ddf-4f26-a3c7-2e2f5c55a005 CLINVAR:12605 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 837a849f-d9e4-450d-bc54-b2fd5ac4721a CLINVAR:12606 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d449c880-3751-4fc4-ab77-5b99677fffcb CLINVAR:12606 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe70a9fa-1fb2-48c7-98fa-572b49f4e9d3 CLINVAR:12871 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24ecd2cd-000d-4109-a250-c2cc64a4a3a5 CLINVAR:12871 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f4e3991-4ffd-4d7b-9ee6-2d7a9a1c6a49 CLINVAR:40678 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 727f5307-2cca-432e-a3e5-a7ac335b9c57 CLINVAR:40678 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32212b48-6562-44a7-8810-d6fc6c940618 CLINVAR:40662 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e8c0c0e-c9bb-4c23-a2ac-3b84b7467c52 CLINVAR:40662 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebfa7d9d-8b7f-429f-8a7d-3dac8523bc43 CLINVAR:40706 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cebf434a-9a79-485e-9e64-125e9cbc4607 CLINVAR:40706 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad64b5fa-227a-4634-bcd2-5fc9a62b5633 CLINVAR:40651 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f22cb15-5fab-4df5-b625-001f6fab1001 CLINVAR:40651 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a5d6fe-3571-469f-a550-38e4ad3eb271 CLINVAR:13957 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cc4d0ed-3bfb-4125-89fa-ab0c9229c08c CLINVAR:13957 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a84764ae-37e1-478b-afc2-dc98462981e7 CLINVAR:13958 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11dd0cdf-3c64-4845-836b-502616fc0eef CLINVAR:13958 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e8eef8-548b-4382-80a3-8eafd762cfbf CLINVAR:13960 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7768667-9c0e-4b5f-8ce8-353262204d14 CLINVAR:13960 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7f5d15e-bece-4a69-b98f-fa148fbbf5a3 CLINVAR:21342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2ba8ef4-9b4d-4805-b161-2a93deeef5cc CLINVAR:21342 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7328df08-2b8e-4f02-a84f-2b331701eec4 CLINVAR:40599 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f19cb5b8-680b-40c2-9861-f5ee769a73fc CLINVAR:40599 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0b376b-c426-45a9-b101-838a46e16622 CLINVAR:13326 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2914f169-4b22-46c7-ba63-baa177ac4c28 CLINVAR:13326 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 932100b5-db41-415e-8060-815cca7fe95d CLINVAR:177868 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7c6266d-6ba9-4e06-ba51-2712f841e685 CLINVAR:177868 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2a0f633-1eeb-4db8-906e-e40ea548034c CLINVAR:8274 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53e91546-2632-46a3-bdf6-7db35ce52f49 CLINVAR:8274 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 855d5187-c481-466a-a053-072b00c5657f CLINVAR:8272 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea02392b-42b3-40c0-bae8-143449b9c48a CLINVAR:8272 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee1e3dc6-d941-4a17-a7d0-e5835ab93caa CLINVAR:8275 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f39e73c5-2cbe-42a0-b69a-d9c11122ba7e CLINVAR:8275 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a84adf-ee5a-49cf-8e2c-0083f1a82702 CLINVAR:13350 biolink:associated_with_increased_likelihood_of MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d11fdcfe-8f21-4392-aaa7-03cda9f03829 CLINVAR:13350 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457395a0-1e2b-4ac6-95c5-0beb393a70bf CLINVAR:40781 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f23ed5ff-5421-489a-af26-66be346f2af6 CLINVAR:40781 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1061849a-afbe-4f8c-be37-91652a86ee42 CLINVAR:40747 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99d7d602-9737-408b-acbd-0f877a5eff0e CLINVAR:40747 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e76d0f9c-84fc-484e-bb00-e438bed317e4 CLINVAR:13351 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8245d5b1-9a21-49ba-be77-0364969b4aeb CLINVAR:13351 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f84974a7-5999-4d8b-8562-d2c2caf7d5a0 CLINVAR:13979 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b3e2526-f3ce-4327-9275-0e82dfd1a551 CLINVAR:13979 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcbcc439-7529-43b5-bf4a-9304aae15181 CLINVAR:13965 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3960f584-c787-4616-a6ea-aa830b531c28 CLINVAR:13965 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7892414c-09ac-406d-9073-66080819c403 CLINVAR:13974 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 284455fe-1f0e-4878-a403-81ac1fc4d6d9 CLINVAR:13974 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 278e7583-592e-40e5-b26f-40e6aa312049 CLINVAR:40346 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 949f1316-9300-4fae-b0e0-836b7aae98fe CLINVAR:40346 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 536781fe-de5f-4906-9ea5-45606701cfbb CLINVAR:44588 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9a56c32-0956-4655-9431-3c63fe992dbb CLINVAR:44588 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6775e1aa-047d-4945-aa43-955b54cdb0a9 CLINVAR:13973 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c33b2d54-db55-4179-8ced-76b2b368e381 CLINVAR:13973 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08966545-17c6-439a-9e0c-3c48cb399b04 CLINVAR:599655 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b2c1260-24ee-481d-a8be-c60c95269206 CLINVAR:599655 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68da79fa-fdba-4cd3-8628-05334b43cdc8 CLINVAR:418841 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1ad1879-0a92-4824-b6ac-7e46bafe16d5 CLINVAR:418841 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7168c18f-7c62-4c4f-9f17-a03ba5435071 CLINVAR:140871 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0201585f-307f-48c5-8653-1aa6fa7f1dbb CLINVAR:140871 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7966661e-f885-4fa0-9932-b91557810ee5 CLINVAR:496233 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8510cd48-818f-453b-9059-09b794cf6e3d CLINVAR:496233 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4528b73a-6c64-43e2-8d2d-dd7f65972bc7 CLINVAR:599651 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4925ac34-f8ed-4b9a-9ee4-ed923ab5e30e CLINVAR:599651 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7358cb90-26b2-403e-85b6-aa7256b12b3d CLINVAR:136055 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ca7ca46-ca1a-446f-b580-c798b598e33f CLINVAR:136055 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd26a519-c9cc-4619-ac36-2f4aab5e271d CLINVAR:463775 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c16da8f5-5b2d-4e25-bb97-2dbc70e1a3cd CLINVAR:463775 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4061c1ed-b90a-443f-ab1c-923ca75d1d9b CLINVAR:156496 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eafeb451-57cb-4872-8e1f-d087deabdf23 CLINVAR:156496 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa5518c-b04c-4095-b2b8-db800a93846b CLINVAR:599653 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ebfb23d-8a7d-4eab-a9e8-c34e51f40571 CLINVAR:599653 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c86307d-ac16-46a5-9f61-cb28fb4278ac CLINVAR:599656 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22e9279a-52f9-4b19-8ccf-2192057c9dfe CLINVAR:599656 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb8f330-581b-4763-bb1d-a3dfbedeb27f CLINVAR:239914 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 725afac9-0654-4e86-b8a9-1ac3fb3e7e3d CLINVAR:239914 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 077077a8-a1d7-4b5c-a3dd-eef2b53860a6 CLINVAR:599652 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f542e66-1190-46fb-8a57-9fa81b23dd9c CLINVAR:599652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e3e2912-4c44-4412-a129-a7e8b837b9a1 CLINVAR:156497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e9b5c57-45d5-4f00-a4b0-da15923cdbd8 CLINVAR:156497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dda1c39-bc93-436a-bd7f-980452070fe5 CLINVAR:156499 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ac93d4e-2d55-49c3-80f0-7cab0d5c2809 CLINVAR:156499 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c05c01da-5531-435c-994c-86df051fca09 CLINVAR:449341 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a252d10c-adbd-40cd-947f-6d33a3f70116 CLINVAR:449341 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa6d6d5-0c47-4d97-b67c-a7f7d954d128 CLINVAR:599654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4edc4645-0b46-4caa-9ee5-c6ce884147ea CLINVAR:599654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4f90aad-0b71-4b50-af73-0176eef39e04 CLINVAR:486824 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d2618a1-f554-4a43-a430-992011bc947d CLINVAR:486824 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e508f7-02c8-4f4a-aa8a-76f613a746a2 CLINVAR:239913 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d921d0c2-471b-4112-8643-fe263f804dcd CLINVAR:239913 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb3c8adf-4795-4895-a7a6-7909ad3df6ba CLINVAR:479504 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b42ab5c-9255-4b22-bc33-267e959d5468 CLINVAR:479504 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22517b3c-d5b9-4d66-a141-3719001b35fb CLINVAR:479488 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6775be06-ccf8-406c-ae38-c1b76f372ce1 CLINVAR:479488 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd23cb05-44ff-4696-a332-2a7e4cf4fb92 CLINVAR:234554 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aed4c568-9dc8-4241-8876-51766073b324 CLINVAR:234554 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c9eaa2-8603-4298-a86a-38cc8b7bf458 CLINVAR:239906 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16b2dced-d3e8-4eb9-94d0-2dc9158dda7e CLINVAR:239906 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac22046-56dc-4959-b3e7-3436cb1e4e56 CLINVAR:483264 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea0ca296-9fb4-4d92-b295-dadbbe285a01 CLINVAR:483264 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cef09de2-cd3d-450f-a0bb-4821ca1e212f CLINVAR:12241 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbfc3c42-22ee-47cd-937e-bdffaeed6826 CLINVAR:12241 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf962128-4236-44c8-a039-18b335fea0bc CLINVAR:231647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e93586e9-390e-43de-873c-10a2f09b04dc CLINVAR:231647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7a03083-b49e-43ab-b9fc-54c731e8a0e5 CLINVAR:187464 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8233115-2894-438c-b682-aa1891f818db CLINVAR:187464 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7621b6bb-6849-41d4-b1a1-7807cf7086cd CLINVAR:18453 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a9ede66-8525-4a0c-88f8-780f1ef8a9d2 CLINVAR:18453 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39bc0dcf-15e3-4984-9261-0228b9044424 CLINVAR:406663 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bdbc8fe-8baf-4a0f-99d7-adf486ffe3a3 CLINVAR:406663 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3915883-a57b-4ec6-a80e-645ed4293c4f CLINVAR:177763 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16f8e75c-86bb-4563-b8d5-6b3be95d806f CLINVAR:177763 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 115e4b28-aad6-4c55-a538-c13b0789ce6b CLINVAR:7826 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22d04c0b-c948-42ee-bbee-735c173ea986 CLINVAR:7826 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1daec438-dbf2-4758-b2ad-c08765b3a51a CLINVAR:185713 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0988e68-9652-46df-a22c-85ba787e8b0c CLINVAR:185713 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5631f7e4-0f03-4cda-877f-eb1d4a030a76 CLINVAR:7830 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90eaff46-be6e-4273-a0a7-dcaaefc698f4 CLINVAR:7830 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b812bf2e-f545-411c-b74f-9bf5ee25f364 CLINVAR:7831 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9cb0ac6-53da-4558-b8a3-ffddc35355b2 CLINVAR:7831 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f8f4471-a5c3-4236-859c-34048fa0fc0e CLINVAR:7828 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0c551fe-1199-4f06-ba3c-886b552f5727 CLINVAR:7828 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869095eb-fa2b-46fc-a80e-8275f753e48a CLINVAR:7823 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 902a3f84-c77b-4884-9f99-8fed21fb41d5 CLINVAR:7823 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3c273c-ddcd-4143-b8a0-58193522e94d CLINVAR:39668 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen add4db05-b95f-43c6-944e-94c4fdfe89a4 CLINVAR:39668 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6cb761e-eeed-456f-bfef-50031eb47944 CLINVAR:140807 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cfb3773-6e93-474d-8d91-d37706538ae0 CLINVAR:140807 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ef4052-7c33-472c-a7b1-2295eb1fc229 CLINVAR:92820 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d713a1d-a8d6-4bd9-b3fd-d34aac4efc03 CLINVAR:92820 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7749b708-443e-4f16-a308-c7c9507d9f68 CLINVAR:39669 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ab638d0-27b0-474e-9a3f-fa18e86195fe CLINVAR:39669 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cae74de-18b8-4f6b-9261-ffe3eac8574a CLINVAR:428271 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51e2df68-269e-47be-9ef8-471cef527fcb CLINVAR:428271 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8faadc15-05bb-488c-ab69-46173e5844ce CLINVAR:428274 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 682fa49a-3292-4f0b-9ae1-8c8b248b1fe2 CLINVAR:428274 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c676d7-05ad-4648-8477-b2c1ae794922 CLINVAR:7841 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a5e3134-742d-4ab4-be72-cce3abc80bda CLINVAR:7841 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53704867-2eb3-45e6-873b-86033d939f10 CLINVAR:7849 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e60cc90-9885-41c0-9271-a911f92330d1 CLINVAR:7849 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288b399b-cd9a-46af-8851-7ef547e28a80 CLINVAR:7839 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa6c01fa-b03b-4cd9-a9c1-9db8895403df CLINVAR:7839 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 821463d0-9c35-43af-bbbf-ac9f69323206 CLINVAR:7850 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2be7fda2-06ea-4a8a-b5cd-70e0ad9bc235 CLINVAR:7850 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b31974ed-3b25-430d-ac7a-b93a0b2b96cd CLINVAR:7848 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee03627b-9bf0-4b2e-8bf4-e4ecade8f37b CLINVAR:7848 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd8a89f-190d-4ae2-a803-bb815ced0b04 CLINVAR:552907 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3543ad53-708c-43fe-b8eb-e138278e063d CLINVAR:552907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c6c36f7-a38c-4b4b-8c67-b17581170473 CLINVAR:619167 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96b4c512-ca32-4a79-a5d8-0878a04d07cb CLINVAR:619167 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 662e7169-1438-4caf-a831-f2febab28939 CLINVAR:102567 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84a78515-e861-488d-8d4a-cdbf900b9085 CLINVAR:102567 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b4cfedc-79df-4551-b6da-871e7c6fff52 CLINVAR:551555 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e36d1a5e-679f-42cc-b715-55cdf9670ffd CLINVAR:551555 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7f937fc-0cc0-41a6-a88e-7a6563dcdc0c CLINVAR:102526 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a185917-786c-4f66-aef8-8d2419964e7f CLINVAR:102526 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75d44274-ad90-4a4d-be43-af3b9437fe10 CLINVAR:619161 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a77a0c0-aa57-4920-968a-81e3dca4854c CLINVAR:619161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d92f7d45-6bf1-4a73-b4a3-b0a3aab9aeac CLINVAR:102525 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20ed614c-122a-4918-8f8e-0012c694f866 CLINVAR:102525 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3665a17f-87ea-4c16-a5cd-f14c82f675bd CLINVAR:619153 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1bb39fa-5280-4698-a2ca-472e53535955 CLINVAR:619153 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2d41404-50ad-465e-9f69-864159245d41 CLINVAR:102726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 074e94e6-68e9-4eca-a28c-276c004335df CLINVAR:102726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99a1c69d-1e31-4551-a45f-287e34638f28 CLINVAR:627 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 021e3223-3a98-4591-a149-e68cfbd14c6f CLINVAR:627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ee2bc3d-27a8-4e12-be22-208ae449185d CLINVAR:208180 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ca5f0f9-4452-4c0f-9fa9-272eb509727a CLINVAR:208180 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c391f4e5-bcd4-4c8d-b304-30b1da685408 CLINVAR:225133 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7339d20b-f378-48e0-b0dc-4f84464900d1 CLINVAR:225133 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 619f0ba2-8ae3-449f-97ea-eeb4cd1552db CLINVAR:633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e08a53f-71ec-4892-a04f-9579d15bc87b CLINVAR:633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ab53155-4d34-4ee7-a97c-864b1a84b339 CLINVAR:102905 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bf22f66-54ad-4a4d-9fb8-78eebfc04887 CLINVAR:102905 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60982651-a637-4deb-badc-64b9479d5f26 CLINVAR:619151 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b125809d-fae5-4f96-a320-1b8ba477fafb CLINVAR:619151 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e486296f-14fd-41be-afef-b1d17a5fcd41 CLINVAR:619162 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a342769-6b08-4b36-b4a1-28a79291a169 CLINVAR:619162 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93b45a02-aa61-40c2-8b51-05bce3a767b2 CLINVAR:619155 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd634d0b-8746-4600-a379-3bb5978d6e48 CLINVAR:619155 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f2df019-4c8f-41e0-aaa1-962127fc889f CLINVAR:619157 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eac66910-959f-4e65-ba69-4d08373c1616 CLINVAR:619157 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a1071db-2637-4d9d-9bee-61a338c507c7 CLINVAR:102882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd60629b-e5ef-48c1-8fec-af03ec47be2e CLINVAR:102882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7703031d-a4c9-4154-9170-e3df77f405ce CLINVAR:102881 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bd3ca31-3906-4b99-873d-ac3d2937bccb CLINVAR:102881 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63e8a4be-e34b-4647-b983-080cb10d00f1 CLINVAR:619164 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04fde0e4-855b-4484-aca0-23b10d906801 CLINVAR:619164 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89073910-e922-4f79-9ad3-aa431a41fb7d CLINVAR:102880 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ab93921-5ccc-4a59-986e-3ab4f6ea62da CLINVAR:102880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fe30b4a-5b0a-4e86-83dc-347b5208b9d3 CLINVAR:102877 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3cd8661-dcb6-40d6-a326-3966cb24ef71 CLINVAR:102877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1cd1ae6-7166-44cd-b714-3e15c7c37a69 CLINVAR:619158 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9e74b8b-c144-4878-b061-4594bfc20f0f CLINVAR:619158 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad894d2c-8ba6-42c3-a86e-a5dd62a3f7ae CLINVAR:619149 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f9ff1a9-f75b-497b-ace2-5456004d5689 CLINVAR:619149 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fa7ce66-ad2c-4ffd-8d90-f7a29327d15b CLINVAR:619154 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e0952d0-527c-4823-a7d5-73d771adbfae CLINVAR:619154 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89be3b4f-ae0a-445a-b65a-ed74ed642ced CLINVAR:120279 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96b6e645-8d91-4239-bcce-30970b7704d9 CLINVAR:120279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 313e13c3-07d9-4917-bd6a-6053f89c5534 CLINVAR:102694 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd097dbe-cef9-4550-ab60-b2f2ebc6af13 CLINVAR:102694 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed869ae9-dfb1-4db5-8d17-ac96b5d998fc CLINVAR:102667 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c48f3c8d-f094-4317-9250-1f1eb25a608f CLINVAR:102667 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f75fa94c-10e4-4708-a176-466b5aa32c7b CLINVAR:102658 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dead885-e40d-4f12-955a-623bb776d186 CLINVAR:102658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6666bfd3-a0cd-480f-b6c3-087e7fb23fc8 CLINVAR:102620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 790781c9-d903-4e3b-a0d7-6865b4d84608 CLINVAR:102620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6252a8d1-8af7-4bea-9f42-37da4e4d6a81 CLINVAR:102619 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd27f798-3b45-4a85-bc71-c434521d602e CLINVAR:102619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32341587-bcc0-4526-bc38-a56505bbca54 CLINVAR:102616 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b0cc5a5-fad9-46de-981b-bb39038a0f99 CLINVAR:102616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f66e07-191d-44a9-9c14-767bd3f17da8 CLINVAR:120266 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c16b25cc-2bdd-4848-b638-a2d72afdcb91 CLINVAR:120266 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c502db2-7677-4f31-80a2-6f52891f8d40 CLINVAR:619156 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45b78f8e-dcd2-47ea-87d6-da2f9c8540a6 CLINVAR:619156 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af638051-9647-42f0-9e86-a2ee29d1dbb7 CLINVAR:619148 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95f0c6c0-3877-4c78-b67e-45cb4bc4f980 CLINVAR:619148 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10116bc3-b7e4-4b41-8211-7d1049690448 CLINVAR:619152 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c469101b-6cb0-43b1-8af5-d0267e8b4a92 CLINVAR:619152 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44945a7a-8a29-4723-999f-cdc8ae7a10a8 CLINVAR:102850 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bab18b9-0238-4a89-8eef-05709370fc14 CLINVAR:102850 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b859fbc-a8b6-4f77-a6eb-295a77f5f47a CLINVAR:102849 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10f35c21-4e1f-4c08-8805-dbefad7034c9 CLINVAR:102849 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e3db31-3dee-4f44-80e2-83f0980f37d3 CLINVAR:102623 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ccb1f68-1b9b-474c-baa7-71ad0c0891e6 CLINVAR:102623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd31269a-d353-4957-956e-146f47c7b62b CLINVAR:102817 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56312a2d-22f4-4a92-b6dc-225dc64d2fec CLINVAR:102817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0fcd2cd-c637-43c9-a9df-761964f7e57a CLINVAR:102816 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e94434b1-4c80-4b8a-ac45-4a62a21b102c CLINVAR:102816 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a98b6f2e-ffde-470b-891e-18dc0157072f CLINVAR:102815 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0be611b9-5852-4cea-b9bf-7a06c866ba36 CLINVAR:102815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a4db35-24ef-4944-9dbc-d8fa82b59f8c CLINVAR:619163 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2273776-7faf-4cae-959e-9fe92e83dd86 CLINVAR:619163 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e549f98f-3191-42e7-ad47-0eb48116d1a5 CLINVAR:619160 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fac37a0f-3941-4c4f-9cd5-0f879f34d03b CLINVAR:619160 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e0fae72-a376-4064-90a6-9197af3e4d14 CLINVAR:619166 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10bf5727-5d81-4532-8068-a8dd9356edff CLINVAR:619166 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8ecb64c-a7e2-4185-9b18-4c4b3f304f7e CLINVAR:102772 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 446f087c-1f0c-4cd8-9f60-2f784a229e5b CLINVAR:102772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c3e527c-474b-4119-8758-353bbb70e1fa CLINVAR:619165 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0dfc2d81-7502-4c13-9038-e17c89e1015c CLINVAR:619165 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13c238b6-9128-4902-9d0c-2c9a3f1a4434 CLINVAR:556296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35b04214-915f-42ee-8322-f7d40e5ae5c9 CLINVAR:556296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7cbb78e-23ab-42e1-9618-8f62fef09828 CLINVAR:102841 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3215094c-76d5-45f9-ad45-baef363d3c73 CLINVAR:102841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63a415e3-d2e2-48da-9343-efabcdeeb305 CLINVAR:102840 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17347534-787b-4f1d-a153-1cc5d80d4820 CLINVAR:102840 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7890ed35-9781-44b0-a6e3-76e54a3a47b1 CLINVAR:102839 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db467ac9-e2ce-4f5e-9101-7481847b011b CLINVAR:102839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 776069e0-0dd7-405e-a734-342fdf5b71cf CLINVAR:370701 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 978ec129-f8d0-41b9-a233-c876592be6d2 CLINVAR:370701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ed8ff4-b572-4f44-afb5-dff1b52433dc CLINVAR:120258 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c06de72-ba1b-4fd8-967c-d361eafd0b73 CLINVAR:120258 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2dbcec7-b30d-469f-aed8-883d90165bda CLINVAR:102767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2180ada1-6024-4e22-aa5e-ec77fdc5e54c CLINVAR:102767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b214feb6-a18f-4a4a-b2e1-046453df80ea CLINVAR:102604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8551b35e-a8df-43da-9427-a4250cade643 CLINVAR:102604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8381f8ef-af75-4f20-9a54-828563dcf4e7 CLINVAR:102588 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 413c4ff8-e211-4849-8786-ccf5010169bb CLINVAR:102588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce57b44-082e-4fce-aed3-e6f8eb3c32ec CLINVAR:102857 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3058ef72-da10-4286-9c8f-39c46a3ff612 CLINVAR:102857 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ade7db-04c9-4be1-a6d1-a89e54c868c5 CLINVAR:102856 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22f1c6b3-22d4-43a2-b351-c1b7767c20cb CLINVAR:102856 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c37e8b69-1bda-424a-9fc2-cb0a000e4b90 CLINVAR:102854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85052f2e-c3b2-4222-85ea-910f57368a13 CLINVAR:102854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9034cf15-546a-48e5-82f3-fed3a243f75e CLINVAR:102853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d159780-8fea-4b66-b79b-d76e981e8da5 CLINVAR:102853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde2520c-971f-444b-a4cf-4d56cf1f8647 CLINVAR:120286 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c7eca3d-9f30-4ac0-be91-9ac0f357e84c CLINVAR:120286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf2087b-aea0-4bf9-8959-cbd5c2479c86 CLINVAR:619150 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71e25912-9846-41bb-8307-34945396434f CLINVAR:619150 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13cb892f-7ce2-49f2-9bf6-787c03634584 CLINVAR:102833 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 942081d4-212c-4100-8fea-f051cfcff23b CLINVAR:102833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7097ba4-3bd8-49b0-a4f2-113263d38e24 CLINVAR:120285 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fec8c80d-8c20-4330-abf4-e545cb26b78b CLINVAR:120285 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57db2f5-7c8d-4dc0-ba18-228913b6c6db CLINVAR:619159 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 342bf455-0a0d-40ce-9ed1-cc02ef9e291a CLINVAR:619159 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b0b3be8-0248-4a84-a5cf-c7a65c355249 CLINVAR:587 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e04ca2c-91f6-442f-b1fe-d484fb19f88c CLINVAR:587 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e202a9-a85f-4924-9b4e-6e5d27c61e26 CLINVAR:102842 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 091e7d44-7037-480a-b5b0-76f4be991dd7 CLINVAR:102842 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23dd729e-4816-4cfd-bfba-0155ea967d19 CLINVAR:102823 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44fffb85-d7ae-4818-af14-776d791e9e58 CLINVAR:102823 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f376cbec-e90e-4c4a-9105-66f80ffec28a CLINVAR:589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9577082b-3342-4686-ae87-da9c8c01285c CLINVAR:589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 151a1396-a593-4946-ac42-a1ea9ad049b3 CLINVAR:92749 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 760744a7-578f-48d6-9b1d-acb7aa0578fa CLINVAR:92749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5732270-cec1-4dc8-aa1e-47c7442b9c76 CLINVAR:46014 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66827d73-3069-4525-ab74-e9d3f6a7cba6 CLINVAR:46014 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3a0d92-fecc-4683-97ff-4cc4f0cbc12d CLINVAR:6611 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afc732c2-2e73-4187-ad49-fd7557dada0a CLINVAR:6611 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08c81215-db9b-4a38-be99-0ca4ad14915b CLINVAR:447450 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cf35b87-3513-40eb-93f7-f6fd39040afa CLINVAR:447450 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e4e23ec-d0ac-4da0-9019-c69cbf8246a8 CLINVAR:555720 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ee55e7e-c8f6-4c42-993d-c9c9c0b72bd3 CLINVAR:555720 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5d8c9d2-3cfa-4f86-ae51-34b2d73c132a CLINVAR:17002 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a320605-6194-46a5-a990-c53f0d1d1df4 CLINVAR:17002 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8980c8d8-96b0-4516-920a-cd4ee7b2d6f2 CLINVAR:4840 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e68dfbd5-9705-44a8-a8ec-844651811216 CLINVAR:4840 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80bc684a-c42b-4070-96c7-5c6ddc4728c4 CLINVAR:17010 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc4d604e-49b3-4583-a42a-e9e1889a0751 CLINVAR:17010 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58bbb3d2-f2d9-4a60-89b3-e919c641a028 CLINVAR:375406 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e25d96a8-c5d3-4be0-ac69-85410889ce0e CLINVAR:375406 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b054bb-6cd8-4051-aac5-57810270dbc8 CLINVAR:43555 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c61b928d-4f88-4b84-849d-c9753b055b87 CLINVAR:43555 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d62989-26dd-4c47-a3d1-d4ba98ada2c9 CLINVAR:48535 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b57eb9df-e5df-4437-b4b7-0fe870e7446e CLINVAR:48535 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e76cc50a-9615-4a4c-ae87-409c2b155b18 CLINVAR:6241 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d188430-e231-49b7-8541-35f8fe8e8cf0 CLINVAR:6241 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c82f459-d7d3-4ad8-a235-d3c2eee9ad56 CLINVAR:43498 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e817a8a0-d279-4b0d-936a-92d84e660ef5 CLINVAR:43498 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02bc7534-ead2-4efe-bdeb-3553f2a1a460 CLINVAR:4835 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1ee0e2a-0bc8-414c-aa95-16f8db8b7a25 CLINVAR:4835 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 209eeb05-1fa3-47e5-b30a-ed608f308de8 CLINVAR:166504 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36dd7fd6-7b6e-48a8-8634-178bfa0b4e8c CLINVAR:166504 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 008a6995-4c36-4c03-af15-46d58259d2d4 CLINVAR:2353 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4aaec4d6-928d-4b7d-9c5b-67f8f3b0191b CLINVAR:2353 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 975c29b5-cc64-48e5-865d-e246306a28c0 CLINVAR:48604 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5225d6c-baa2-4570-9d4a-48db0e62525a CLINVAR:48604 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd71b04-36c3-49ae-8e6b-673c8040986f CLINVAR:43565 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8148556c-f151-4df4-8247-a148b8e3e27a CLINVAR:43565 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c69142-a4fe-4f8f-957f-e6c5684c4d51 CLINVAR:48347 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3b8cab6-17f2-4c35-9bf9-e90b8af0bec7 CLINVAR:48347 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3592ecba-553d-4f8d-964b-7a71ec2b678f CLINVAR:197510 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd44fa4f-eb69-4a9f-ba59-0b98fd517413 CLINVAR:197510 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac286450-c749-40d4-bb13-e25bd9066caa CLINVAR:189148 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e65d8373-caed-4cf2-b550-56e950322816 CLINVAR:189148 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0555bf60-ac65-4150-93c5-a9f27b667765 CLINVAR:449088 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f349553-2545-4dd4-aebb-907e135b8768 CLINVAR:449088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28ec9b3a-183c-4a93-a15c-850d454fc533 CLINVAR:102661 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b258fd5-d4f7-461a-a0fb-0338aca61fb0 CLINVAR:102661 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2061cd47-be6a-480c-af02-3513bc1b0fd2 CLINVAR:102858 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36453eb8-ac2b-4985-9edd-b80d5580e6cf CLINVAR:102858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b77cdc10-340b-4f44-8e0c-433feb980899 CAID:CA16020876 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c23dd8a7-ffaf-43c0-8a44-68297fed1833 CAID:CA16020876 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d69c881-580d-463e-a53f-f8be4541ee26 CLINVAR:102889 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 880fe1de-65c1-42e3-94c2-b1622edf4b1a CLINVAR:102889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef357a1e-04e8-49a0-bbda-a782bbdfed05 CLINVAR:102584 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdaa328c-c0ce-4022-bf03-3ab25e944ef4 CLINVAR:102584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d7e652-f81d-4fdc-b6e8-6b969cdb549c CLINVAR:120274 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 140701ef-afe2-413e-8cfd-1859f97e08a1 CLINVAR:120274 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa00c10-4b02-4c7b-8330-226ad1759aaf CLINVAR:102689 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e782e6c7-6474-477c-986c-24c50f2355d8 CLINVAR:102689 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce7ab087-421c-4a3f-8e1d-c5da89af6b7f CAID:CA16020719 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79ad5521-d177-4c6e-91df-657bff359bbb CAID:CA16020719 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ee8d24-0777-4fe9-9733-2204cef63d2a CLINVAR:557124 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 000106a0-fd03-4a9c-827b-3107599a8403 CLINVAR:557124 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eaf1285-ffe5-4cc3-9b2b-121bfba77f7d CLINVAR:102744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 852b9ea3-2970-4cb6-b937-eb9a1d82aafa CLINVAR:102744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0788036f-4163-4721-b66b-e7856972fd51 CLINVAR:102581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02301f6f-055c-4e61-ac4b-4089e4de7cfd CLINVAR:102581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e87369b-e8b2-411a-aaf3-8209f802b6ad CLINVAR:102660 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9c4bf04-d17a-4f89-bbbd-edfc598fbc4e CLINVAR:102660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2cc7892-135e-4f3f-a441-d3a33f9303cb CLINVAR:102686 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d272790b-8aed-4664-99d2-0e5a7c10e6e1 CLINVAR:102686 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf96ba34-d2e2-4828-a189-d112691db0aa CLINVAR:102700 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f684cfe-1df5-44b8-9536-27a8eecba8cd CLINVAR:102700 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f59148bc-665e-4ebf-bff9-1169e2d32edb CLINVAR:102701 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c77ef28-2086-49a2-bb54-389a227998aa CLINVAR:102701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974cb579-5949-43d0-8d75-702451fec041 CAID:CA16020800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4700a1ee-ecce-4622-971f-759209068621 CAID:CA16020800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00696003-0670-4c33-b7f1-1860ec038b28 CLINVAR:102702 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d6f512c-f792-4cae-bfcb-aff4cd13b880 CLINVAR:102702 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88a6a2b8-aa24-4e97-bf2c-6b98acc1c0a7 CLINVAR:102721 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81b1bf74-707f-48c2-a918-b4a444c04bcd CLINVAR:102721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1508130-9a38-481f-af12-dbc31da22528 CLINVAR:555366 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e0ea8ea-c869-430b-aa7d-3a3fce59cd1a CLINVAR:555366 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a80cb827-de45-4293-8fce-f3c56bbd8fee CLINVAR:608 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91f315c1-9414-4318-b47a-9e61cacf1b20 CLINVAR:608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e8ef534-91ce-43a7-97fa-052ca9d208bd CAID:CA16020761 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48c0fea9-a44f-4835-863d-70fe095b3737 CAID:CA16020761 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e11257-bc8c-4fe6-afed-4b7fe486f78d CLINVAR:102873 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94065497-0f87-4f2e-83cb-d029d709c526 CLINVAR:102873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 890517ff-e658-4edf-98e2-c068c6fc0456 CLINVAR:102869 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e0e5619-2fdd-4eab-b170-a29884a7e88f CLINVAR:102869 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc464b1-0ba5-4948-8e67-470878547b4e CLINVAR:102670 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1e3b7fc-bb42-4545-ac82-073e3f8df0c6 CLINVAR:102670 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eb28b3a-8ec0-4279-8d41-0fec38c1a4a4 CLINVAR:102735 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7726bd2d-16ab-4f10-ad5f-80452dfdf1cc CLINVAR:102735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ff30a1-2ed7-46a7-b036-93a9395c4b67 CLINVAR:120280 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d2e4ee8-fa06-4a54-b15c-ae3fcf8ac82b CLINVAR:120280 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10966d5d-0476-4c3f-8a8e-fc6845327feb CLINVAR:133314 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 409fe326-c8a6-473b-87fc-dc8cad4e25fb CLINVAR:133314 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cef67fd-dc32-470d-b356-b8562fcdda94 CLINVAR:597 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9e93e00-f275-47c6-97f7-5196a9fdcf6f CLINVAR:597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d1eaac-16ed-4093-92ee-0574a635d31a CLINVAR:120265 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfdc0f6a-d64b-4c98-9c60-6b77f40a23db CLINVAR:120265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b49b03c-d5a5-4b9e-9987-f287d2f74be1 CLINVAR:102605 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f81cc9a5-f5be-460d-b779-b17e12bcbf08 CLINVAR:102605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a7fff01-93e3-42cb-94cd-d9e5070f21f5 CLINVAR:120270 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de73511a-7385-4209-a9d1-06ce9fa3d713 CLINVAR:120270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 310e9a70-7c54-403d-a072-78547847a1bc CLINVAR:120277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35338cc3-ea42-46dd-bc31-ab69e07d7356 CLINVAR:120277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 637bf814-6729-47b6-802b-f87b255266cf CAID:CA16020871 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd3998c3-7b11-40ca-9e8f-074db98b54ba CAID:CA16020871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b2836b8-b118-4319-ae87-73a83fc2ec09 CLINVAR:208182 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8198a1d4-00d7-4f2d-a6b8-c9ac9de62605 CLINVAR:208182 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5da39e3c-8ae4-4137-b021-a3e1ba103a82 CLINVAR:40447 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3059dfc7-07f5-4542-b62a-76bad344ec0f CLINVAR:40447 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0d6887d-5cf2-4dd6-ae06-0864777a68c4 CLINVAR:40347 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1c148df-4273-4b47-aa51-8662c3e2069c CLINVAR:40347 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4edeef98-058f-48fc-9833-b3b400b6a21e CLINVAR:40348 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c072620-a39f-4e3e-80ed-5f4658483b1d CLINVAR:40348 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20a78be0-16d8-4954-bcb2-16921dc99254 CAID:CA281951 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67080211-4a45-4ae0-b5db-0f281ddeb412 CAID:CA281951 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e3326f-a8a6-454c-92ca-821889be1e2e CLINVAR:180784 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7add7525-6a16-4e4d-b713-71be49e17c37 CLINVAR:180784 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d898fbd0-e63d-4062-8234-25fd6d4c3ab3 CLINVAR:55793 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31b5a8d4-6bc9-4f6a-a85b-e60a3ef409eb CLINVAR:55793 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a2275cf-b315-4082-9c44-9a1bccbf853f CLINVAR:44830 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf48d3b0-6e7e-4a60-85e3-f7c84c60fba7 CLINVAR:44830 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f76bf8b-cfd7-4cd9-8ddb-b58dc2762a63 CLINVAR:477669 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b3f9664-64af-400e-94be-36646683e73f CLINVAR:477669 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c384f6-2ff9-43cc-a9cc-96499b542bf1 CLINVAR:40485 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e54db238-c391-480a-b3cb-1a7cd6f5bf6a CLINVAR:40485 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e809f848-d450-4fdb-8d7a-68fff8d14e9b CLINVAR:543999 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f407c45-ba9b-49c8-b8f2-fb1b51fff096 CLINVAR:543999 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99dcd1b4-6540-4222-bbed-bb5092676d8d CLINVAR:40818 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 623ea130-6370-4f1a-a0e9-658b3d72ace3 CLINVAR:40818 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee5dc353-4f11-48fe-8a0d-a30a3f81e224 CLINVAR:40562 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 741dbc02-a0c9-406e-8cae-bffac2b1f560 CLINVAR:40562 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a20fc36-afd9-4425-9482-be8453403be3 CLINVAR:40513 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47d2b668-f3f6-4f43-9d6b-28fae40512e7 CLINVAR:40513 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65304740-ba85-4ac4-a306-4e2a498fff22 CLINVAR:17000 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8281713-61c9-4d14-81f9-3960dff3e07e CLINVAR:17000 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ac7a84-aff9-41cf-bb69-94f6b75f0b54 CLINVAR:203873 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5a02c1f-7339-4637-b3f8-306bc9b4440f CLINVAR:203873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888d4609-d531-4696-a88b-597af134691b CLINVAR:585206 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39acd46e-e6e5-4edc-a482-8aab7b7f0e27 CLINVAR:585206 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef2d8a69-6828-486c-a1b0-f6db127401bc CLINVAR:102626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49e1ae7c-5c99-4622-8cca-7909417a9747 CLINVAR:102626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f4e3a35-6ca0-48c2-9f84-30c94160ed78 CLINVAR:102647 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6574b59e-b15d-4571-83d2-fc32a1d1c76e CLINVAR:102647 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd255397-053c-4b76-b17e-76ffdea7cdb2 CAID:CA16020886 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61fba64f-96ab-4881-b2cf-39a2ef8cf9d9 CAID:CA16020886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a7d4129-94d3-43a8-87e9-419f01385dd7 CLINVAR:92750 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b3c3953-2d54-4f76-88c7-dcd7f959e0fc CLINVAR:92750 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f080b54-374c-448e-88be-843baf6978ce CLINVAR:102885 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7307ad0a-4ed4-4306-93e6-530e57b09c3a CLINVAR:102885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 791e75c9-5219-4223-8587-14d0f56e8d1f CLINVAR:120291 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acebfff4-a030-4e90-8ea1-af6001ce2b95 CLINVAR:120291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4c5ac8f-555d-4c5d-a396-1ebe4ea2a52c CAID:CA16020885 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acbe9505-626d-4d6b-a2df-35a1d0bbf11e CAID:CA16020885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d981f074-0f15-4b44-84d5-faf55a8e25a1 CLINVAR:120297 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b91ec7c7-0d68-4dcc-917f-029f9805efa7 CLINVAR:120297 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a325182-358c-418a-8491-08ee1f42bf8c CLINVAR:120288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b30c61fe-0cca-4f40-924f-fbf7bd23bcb7 CLINVAR:120288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a7bda7a-30e1-49a4-a01c-8e294545a4a4 CLINVAR:637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da103a27-0542-4b4f-8367-6499251313ed CLINVAR:637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e723790b-9947-4d10-ab02-4713330999ee CLINVAR:102884 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c8975af-3b1f-46a0-8c24-b8f043332216 CLINVAR:102884 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 664615c6-6799-487e-89b4-5634b1c905e8 CAID:CA16020846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53665e9b-d15f-4a8a-97b8-e54c020c2c67 CAID:CA16020846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac076d7-d90a-4994-8096-c9ca585a3b0d CLINVAR:102886 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee8c56ee-c05c-49c1-8a0f-56b6d24dc87b CLINVAR:102886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a54b2b-7d69-4fa1-b9aa-f6037a83333b CAID:CA16020889 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 032ef285-9106-48df-b295-b26633f90130 CAID:CA16020889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4447c78-dce7-41f3-9562-c7e1d2f9904a CAID:CA346365197 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd54902a-5781-4159-981f-5ae7fc43a491 CAID:CA346365197 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b3dc8f0-674b-4f51-902f-3a7700629f63 CAID:CA891862608 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c8ed2ca-a56b-4c54-ac9a-ef12530b09fb CAID:CA891862608 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f7edc71-354d-4e44-9bd2-20aa5c06ccc0 CLINVAR:45373 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9fa43f9-a9e3-4299-bb47-4a34ecfb4420 CLINVAR:45373 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d820832b-1a2f-44e0-bac0-ce4c2d8e3576 CLINVAR:8273 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1b17c39-7d9f-4e11-9b88-c08026720e0d CLINVAR:8273 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ace23d8-6c47-46d4-8a65-05fa6993f73a CLINVAR:13331 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d4ff3be-59a9-451e-9bb1-ff2292e7b092 CLINVAR:13331 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f01942a-8679-47e3-9e34-9b3703767f4a CLINVAR:13333 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61e578b6-51e4-4af8-bef8-0a5ddcf728bf CLINVAR:13333 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d83ea6-6afa-4987-bcba-cb56ec8220fa CLINVAR:158604 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2f6eea5-e997-4912-8e24-22773e79bb66 CLINVAR:158604 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280823a8-d0d3-4f62-9aa0-63f892216bc9 CLINVAR:162956 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6785eb8-b087-4dd0-8db0-e1c387a33570 CLINVAR:162956 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10bf0bc0-c371-4d71-bd44-d98fe648c41f CLINVAR:177732 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bd92f27-8deb-4c7c-9742-1fb12fdb9dec CLINVAR:177732 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fe05020-b0f9-4667-b3e7-698761dcf5a8 CLINVAR:44760 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4173cd47-02d6-44d3-8ce7-82d1ca24d851 CLINVAR:44760 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e26d12-8599-4441-be79-41dd21d7494c CLINVAR:4838 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5b50f22-9554-4420-9181-28639fe06046 CLINVAR:4838 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd2dbe99-3dd8-4122-8f8e-43e9538684da CLINVAR:17023 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97d22304-f8e6-44eb-a662-44db70e297c6 CLINVAR:17023 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cdf6538-e3f9-49d4-b813-8eafbae78dd5 CLINVAR:120260 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf2d3a75-43d8-406a-99b2-80f3590fc8c2 CLINVAR:120260 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c23e737-899c-4607-a24b-555c1e8aaf6b CLINVAR:7817 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e03a964-b68c-4e38-ad08-8317ccc963bd CLINVAR:7817 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 378e32bf-01c3-4d1d-8991-4d156ef6ff9a CLINVAR:223142 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d38a1ecc-c103-4145-8c9a-03d9048e2926 CLINVAR:223142 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3092657e-969d-4488-b2df-96b7c47c7d7f CLINVAR:375958 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0fa2447-e74b-4534-8bb6-d0526106b8f2 CLINVAR:375958 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc96cd6a-648a-420a-a5c6-a01a396f65bf CLINVAR:375959 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d5948da-eb27-4ac5-8d12-0bc62faa1c48 CLINVAR:375959 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75a62a2e-c429-484c-8960-b1792112222b CLINVAR:189403 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6eb95ea4-2f12-4be2-8711-247ab77b65f5 CLINVAR:189403 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d71000e-92b5-42c6-ae86-421f0752ce5b CLINVAR:187827 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34aed38a-0452-4f5c-bf85-606cd5dd0175 CLINVAR:187827 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d5a2513-f63b-4fb3-82db-96fd3ced022b CLINVAR:142212 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b56554da-2ac1-424f-a13e-14a5969c0ccf CLINVAR:142212 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5e17f3a-cf7c-4c55-870c-bf0ac74f11ce CLINVAR:237639 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aee9dc85-91b5-4347-a7c7-c011001fc89d CLINVAR:237639 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebebf662-a1e0-4709-a250-66787e591363 CLINVAR:184466 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16e07478-3b81-41da-a6d0-5939954a3596 CLINVAR:184466 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6062824f-8849-4590-aea9-0b91c7d0a761 CLINVAR:427623 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e58b4d0c-55b3-4c97-885c-3792d2bb0350 CLINVAR:427623 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d769bb7-9313-43f9-9653-2f9171069819 CLINVAR:372481 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f599454-c5b8-48b2-a61f-31edb727b6d0 CLINVAR:372481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8cf07b3-cd03-48fc-889d-35060c9b9957 CLINVAR:372482 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c98b22e-e34e-4eb2-bbff-7d13e4ce5d71 CLINVAR:372482 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba42691-7a2b-4cc3-89d5-5c417d7b7bc1 CLINVAR:184844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1d1cf73-a64e-41de-a635-fbb19cc7ce81 CLINVAR:184844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fbb1973-9fa6-4222-bd1e-7f332e0819dc CLINVAR:376510 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94977095-724a-40be-86dc-836d786ffd7c CLINVAR:376510 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b45665-4b0e-4743-be81-17d83157f584 CLINVAR:139567 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb905954-51eb-41d1-a9f8-37e3a027a0d1 CLINVAR:139567 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 994f856b-9b9b-4f7f-8932-6d5e25206e1a CLINVAR:237643 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fabc5f37-6fbf-4170-b97c-a6fe389dff93 CLINVAR:237643 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f8560d-f184-4c6d-93de-b9d214bba6a6 CLINVAR:7843 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e76dfbf9-2c71-4727-b074-f8ef862eb2b2 CLINVAR:7843 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e3f95d-c3f6-4cbb-816a-c1d0e05c0447 CLINVAR:428216 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9df6936b-4dbe-4d6c-b53d-1d6a977427ba CLINVAR:428216 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2322ebe7-ef93-4b43-b3fd-26d18e523b11 CLINVAR:7845 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e99788c3-1a9f-487a-ba7e-1f3cbfd5bda2 CLINVAR:7845 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c922bc-3355-498a-946d-6f47a755e463 CLINVAR:428206 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 494dc984-d248-435b-ad0a-6e66f4c45076 CLINVAR:428206 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f39a88b3-51fa-4ec6-8a25-feebb6e91a7e CLINVAR:7825 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd334de2-7749-4f2a-9384-22477af87303 CLINVAR:7825 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68dc782f-037f-4a29-bb2f-25cbf03cfa6d CLINVAR:7821 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8c6167e-ca87-426a-9dac-694d6457cc1b CLINVAR:7821 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10577f1d-0d78-4caf-93e6-75d595aa164f CLINVAR:7822 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70b05a38-582c-4f94-b3c1-4a28b95f457d CLINVAR:7822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fbd10f2-7347-42d9-b325-236451e61e6f CLINVAR:7840 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ca33d3e-2a2d-407d-aad5-0c11b3ca81cd CLINVAR:7840 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5964e698-6bc9-4215-9be5-b7390012a28a CLINVAR:186427 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb5a73a8-a712-4ac9-8a69-54c304b6b4be CLINVAR:186427 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57e49c21-7bd6-463e-9981-e153dff99bb8 CLINVAR:142261 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99e552a3-0708-430c-9408-b9637e3c8d3d CLINVAR:142261 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1252c99-83d6-478d-86c6-b45be625b64e CLINVAR:186161 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a93ff3b7-3f65-47fd-be06-8dc71d15c221 CLINVAR:186161 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f428feaa-c69e-42e6-b232-75caa5c985c0 CLINVAR:184878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d42ef2a9-89c0-46c5-ac68-f6f7f36cabcd CLINVAR:184878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b701fa1-b4e3-49c9-9712-31f463f6bda2 CLINVAR:127696 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04f0a26a-f808-46cc-ae8b-8d95865747f5 CLINVAR:127696 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4c22484-c1bd-4970-865e-dd25ae00f8f3 CLINVAR:45304 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3be5d00b-b410-4304-8fe7-c0e8f1ca4c39 CLINVAR:45304 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f27be2dd-b42b-4445-b923-b02e007b5637 CAID:CA16020890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 717c9151-ecf0-435c-8523-21cd756a350e CAID:CA16020890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2139ec74-f46e-49c5-9cfc-9ae7dc29b862 CLINVAR:376018 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b734bda8-b351-4930-bc54-5ad5d3e00d2e CLINVAR:376018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e66b8604-1998-486b-9dcf-6fdd752af5d1 CLINVAR:545522 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ffe78c2-f10a-4f6b-9328-26d7eb0a8ff5 CLINVAR:545522 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05923137-de91-4483-bbb8-ecc9502c6868 CLINVAR:14467 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b419eba-569a-4286-9f69-7c46058a6097 CLINVAR:14467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 438eadc0-bf3a-481c-b446-82a0a586866d CLINVAR:561222 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68c7176f-d7f2-4003-98ba-19671cd76feb CLINVAR:561222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5515bf78-7b9a-47d0-ab5f-8ae84dcfdc51 CLINVAR:14465 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27b458e6-2e02-4ea6-a4b9-cc17c75b56e3 CLINVAR:14465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aab7696-e5f9-4d69-8a61-231b0716ccb5 CLINVAR:429813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cecdc58a-3dab-413b-bc84-7a48f86c1b06 CLINVAR:429813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21ccbe7-d247-4f66-a542-ef0c60fc031f CLINVAR:14468 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ed5b860-8df1-4cf4-a830-3b223f9077e9 CLINVAR:14468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ad04ee-eda4-4830-8f38-9a2ff13d7b17 CLINVAR:14471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81751203-f702-4a05-8dfe-072d04df8af5 CLINVAR:14471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1344dc4-09e8-4f92-8e60-cc225920e11d CLINVAR:417961 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd2fdbd0-d207-4887-abea-077754624198 CLINVAR:417961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 651d8079-5189-4a78-a4cd-585a028e6905 CLINVAR:212089 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35681655-2525-4db8-97db-59625d61d3b1 CLINVAR:212089 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd512b4b-3f75-48f9-bcd8-8f336fbc4e6f CLINVAR:14464 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28b544ba-9b8e-4c88-a803-d156e8447397 CLINVAR:14464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f907e343-a4f7-4f6b-ba51-03440a356c3f CLINVAR:666273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84b00b10-f502-404f-881c-cd1864c11303 CLINVAR:666273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a87ff9-fe88-42aa-8778-4f26f6b99c0b CLINVAR:463988 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f2e24fa-da2a-421b-92cd-f6919c2d478a CLINVAR:463988 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d2e800-5682-4b0b-a10c-001de5dc0bce CLINVAR:14470 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b2ce022-e44c-4bd4-aeb9-1070685860f2 CLINVAR:14470 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3202f602-c10b-4cc4-bcd9-5167755b0463 CLINVAR:436616 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f67df275-c48f-4191-a4d6-b636cb62a930 CLINVAR:436616 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1cf535d-ddb0-4722-a265-d10c85357832 CLINVAR:14463 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c61810e6-e479-4fd3-9557-966a4be66ae1 CLINVAR:14463 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70340ce3-7765-4d97-8332-676df95847a3 CLINVAR:409822 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ad68fd6-0627-42b5-ba44-649645a8d810 CLINVAR:409822 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa25365-1343-40eb-8e7a-f279a043d116 CLINVAR:14466 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f568e9f-39f9-4593-9141-17b57da65c83 CLINVAR:14466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07aef69d-3e2a-4e9e-8f16-da44b299c8ce CLINVAR:532664 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a194acb-d709-4ec5-8413-06dd901797bc CLINVAR:532664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d20e7c20-2f5d-46a3-b94e-db46ec526ed7 CLINVAR:339874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16e1f267-c928-408f-be54-1887da5a9e28 CLINVAR:339874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612fef2f-9bae-4cd0-8a86-a20fc06c9575 CLINVAR:532662 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c4b17fd-8737-4d8a-a860-aaa9edb32f92 CLINVAR:532662 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a168ae98-4f97-46c8-8cf3-d3a67ad72857 CLINVAR:436618 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee9cde6d-6c03-40c4-ada1-effe56bb760f CLINVAR:436618 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 808f6570-22df-4aab-a079-e3a54f9eb868 CLINVAR:532659 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e19105e-6327-407d-8929-a712ec2999a9 CLINVAR:532659 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5107dca5-0bd9-4a88-8dd7-7cc015a0f9d5 CLINVAR:561246 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2729e353-bdd3-4593-a0c2-babaac8b6ec8 CLINVAR:561246 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 856f19ec-9de2-4ccb-b759-cb40e2c5d151 CLINVAR:561243 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c962d419-b382-4495-87cc-055ada1d1566 CLINVAR:561243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f22192d5-b5e1-4b90-8400-400bab1c544c CLINVAR:463994 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 903a9f18-18ab-4e16-a16e-acdc97496850 CLINVAR:463994 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b0ae7b-068b-4758-9a0e-60bd6163ec80 CLINVAR:532671 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b477715-1a77-4741-9f30-f9f8506ba3ef CLINVAR:532671 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 619a418c-3f6a-46e9-9a7c-d4a25973b567 CLINVAR:436617 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02486f71-3424-4e38-bcad-f45a65075d01 CLINVAR:436617 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c18cce-2e9c-405d-b791-91796fe38bee CLINVAR:561233 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78ac94ca-a8cf-4d56-9bdd-ddfe76dae57f CLINVAR:561233 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 737c6c9e-d6f7-444c-9703-a648ec4dbca6 CLINVAR:666274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93eef1d1-3b6b-4969-89ba-f70e28b6fbab CLINVAR:666274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b3d27b-a03f-461b-ab1d-d87339b622bf CLINVAR:417477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b26af0e6-d79f-4b13-82a7-c2d7a6d68fdc CLINVAR:417477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb43d900-2070-4e6b-9fba-bb6ad0ae4816 CLINVAR:463975 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a4eca7e-67ed-480e-81d2-636ad4671661 CLINVAR:463975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d1f0e3c-a4c1-4a2d-9375-c9545916265e CLINVAR:254081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a613d023-0ae0-4690-9101-1a9dccbbed25 CLINVAR:254081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d43b330-07f1-4e52-bf93-2c100aaa80a7 CLINVAR:120275 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23dbdb59-9fca-4eed-ad04-b6942637f593 CLINVAR:120275 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69abc948-1781-4c98-9ba5-585704e10b6c CLINVAR:102892 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e2651aa-2c87-4650-a432-8ce16d3668f9 CLINVAR:102892 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59b08faa-38aa-44fd-85bc-766fc4063e1c CAID:CA16020877 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 169ca0c6-ebb0-4558-ba72-f8444d808b4a CAID:CA16020877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897043f4-e3cc-4aff-b473-35ffb76e6fde CLINVAR:125436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d96c9381-11f3-487b-887f-c374185ffd83 CLINVAR:125436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6ed7b72-664c-42bb-980d-878fd7fd79ff CLINVAR:120278 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed46b1d2-1b84-4173-97af-c9a67bf78bc7 CLINVAR:120278 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69573874-7f3e-46e6-9475-acb6cbc6ddd9 CLINVAR:102832 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 747ca0e1-8281-4c7b-987e-810f7c37fdb2 CLINVAR:102832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0873d840-a992-4be7-94a4-70b86ee091e2 CAID:CA16020720 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06bb2632-f259-4913-ac30-102f152ea39a CAID:CA16020720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1fd5d83-1be1-4d10-9cd4-22936ea486bd CLINVAR:102749 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81e85369-f913-4b6c-94a7-af63788e8c6c CLINVAR:102749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d95d67a-d58d-4faa-89bf-400aa914f6e6 CLINVAR:102757 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af78cdf3-a230-4177-9b53-45d95796965a CLINVAR:102757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f96576-8415-4b72-8baa-910178669dfa CAID:CA16020722 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c93376a-e1b5-42e1-b153-52d4d5dc324e CAID:CA16020722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fe547da-64e3-4ebd-a19f-64b6a3df972f CAID:CA16020714 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e46dfa8-2c32-4861-b7a0-96c89b9b5fe7 CAID:CA16020714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73bfbf80-6a58-4fa2-b47f-41c6f50d75f3 CAID:CA16020715 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b1fc41e-d5c8-4f0c-b295-1aaf39592e00 CAID:CA16020715 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e5fd8f-f1bf-4b29-a688-a93444400a5c CAID:CA16020716 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ebe4d81-05c7-4235-b691-52a42b387115 CAID:CA16020716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 322c3a5c-6489-4b0f-926c-3df31233f42c CLINVAR:21385 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6f77d16-d359-41fe-8037-206c68c9ab94 CLINVAR:21385 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3aacb02-bdb6-4a6a-aa0b-1af97c724be1 CLINVAR:444219 biolink:causes MONDO:0020678 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82dddbfd-2088-44b2-86db-966643ad66f4 CLINVAR:444219 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 186619e5-550a-43f4-b67e-26863159b580 CLINVAR:2356 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e313c1e3-e3ff-4efa-b882-1d89a1e24713 CLINVAR:2356 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4845a336-ef6e-49e5-bd87-ef5f58cae41e CAID:CA891862634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6982c382-b814-4c36-8929-bd2e6e502ea9 CAID:CA891862634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40f1f29f-7fa5-4323-a158-ddce8fc75b32 CLINVAR:102597 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2687bbe-9103-42af-b900-e83a58325068 CLINVAR:102597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51326208-93fb-4097-8b64-97d240a3589a CLINVAR:120310 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 959f5300-887e-4cfe-af8d-2f9605671a62 CLINVAR:120310 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f82e481-4ee2-424d-8f6a-0a714c1099fb CLINVAR:611 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2378352-5cdf-47f1-9deb-b6624a36de5c CLINVAR:611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b9289c1-55fd-4900-9ac2-bf6721ff8807 CAID:CA16021002 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1a38990-fc36-4040-bcc0-6efce375a37e CAID:CA16021002 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec5961ab-5c02-4804-b38d-e25f78bf7024 CLINVAR:102531 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df1679c3-b97c-4fef-b8a7-cd860670d86d CLINVAR:102531 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21cc2ace-9d94-435f-b94a-52da94f83012 CAID:CA16020735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 631fed4a-a4bc-4e79-8f8e-e8f56024d707 CAID:CA16020735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 324d268e-e10c-4500-b7b6-a3c33f3a7822 CAID:CA913184971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 851258e2-59f0-41ee-b008-651271a2d91b CAID:CA913184971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a0597b0-6d2c-4707-b6be-41311b57d9bc CAID:CA16020737 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da484e79-664d-49e5-b765-dae0c8e06370 CAID:CA16020737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de89e77c-bd03-470f-8641-3f5c0b2d189e CAID:CA16020872 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed55aed9-24d0-4f74-828a-2ebfdab2977c CAID:CA16020872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c5e2ac4-c767-4948-8c6a-65b85bf1ccbb CAID:CA16020746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b62d2fac-c7da-4970-9541-07aa72a9a870 CAID:CA16020746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3cd6d2a-b3e2-4853-835e-0aa4164c2a9e CAID:CA913184978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ff5b2bb-ede5-4729-ad36-3d45c68a0f09 CAID:CA913184978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b599aabd-8761-4df8-bf66-c580c3dd60c7 CAID:CA16020742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 317ddf22-b211-46d4-be75-1a8cd2fceb55 CAID:CA16020742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81cce240-4d23-4561-bd03-ec345fb3c7fb CAID:CA16020759 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76545093-bb8d-49ae-b8f0-ba8d61290200 CAID:CA16020759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe4bbda7-95ad-4758-a60d-198a2f5f0971 CAID:CA16020888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d303f329-fb8d-406c-b3da-56db7d4b872a CAID:CA16020888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08842776-90e7-4528-b57e-13175a62a472 CLINVAR:102888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94e95e17-c497-42bf-b21b-cc0a912670b0 CLINVAR:102888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5bc1cfa-7f30-4185-99dd-6ed488615871 CAID:CA16020730 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf343ca6-9fd4-4a67-b9a3-f7b337c3bdf5 CAID:CA16020730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca4b741d-5d84-43a5-ac23-2d6dd252da7d CAID:CA16020721 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb715ed0-8954-4eae-8140-c1cc66c92c2a CAID:CA16020721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48c1d429-7553-49fd-9038-6dcc4d88197d CLINVAR:102607 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59f5b041-1c80-4976-b349-ae36d8227b1f CLINVAR:102607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dccfa9a3-6c45-473c-b524-4f0b7bd8d69d CLINVAR:102613 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 828da3f7-8ef6-43bf-aeb0-08b80418580c CLINVAR:102613 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8869da4-d771-45c4-bdc9-3f25adc39a23 CLINVAR:555212 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 973f4c9d-863d-492d-a2c2-f6a821658645 CLINVAR:555212 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e34e5de-8793-4eb5-b6fa-7d4ac7979a10 CLINVAR:2355 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b92d3da-1445-4c53-a1ee-e4f7ff1bab50 CLINVAR:2355 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a51bddef-eed8-4009-8b3f-681c047b25cc CLINVAR:140803 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 895d3c8f-07e0-4863-af10-0b9b9e6555f7 CLINVAR:140803 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc936a0f-3e9d-4c50-8b7e-d560dffdbdd7 CLINVAR:545785 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6466c4c9-f34d-4589-b6f5-fae794cce857 CLINVAR:545785 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ecb1c0-1a53-40e6-9f8c-77a2f879a04e CLINVAR:582514 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fc7cb42-ddba-4014-9f9e-7d41b2a836d4 CLINVAR:582514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0aada7b-4505-4e51-92d5-bad6d50abcce CLINVAR:545738 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60ea5251-235b-42a0-8981-e28499ad1759 CLINVAR:545738 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 167539f5-257b-413e-b9c4-f279b133914c CLINVAR:578952 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77be2bab-622c-4d8a-8fbf-8a21590fd625 CLINVAR:578952 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84a92ed0-bb41-483a-8b64-e22b250927d9 CLINVAR:463743 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bc7a502-263c-4e07-a24f-c526bf5dd9ae CLINVAR:463743 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a27a58c0-2c24-417c-85c8-d72d3993332e CLINVAR:142888 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c55cf77c-fbc2-4ec8-bdf1-442ff6c4a669 CLINVAR:142888 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6ff2ae5-2716-408e-9ccc-743a8752e308 CLINVAR:141206 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0aa86bb-8b69-4940-8e42-6ad51ca081f0 CLINVAR:141206 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13c6fa22-939e-4749-a1df-0294c984297b CLINVAR:406669 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42427155-6ecb-4b8d-875b-495236bcf190 CLINVAR:406669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d8f5ee6-a185-4e5e-82fc-5822c7287915 CLINVAR:483251 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d2c10d7-e54f-47ee-af48-459f699920db CLINVAR:483251 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e465092-1ff1-4a22-bcc2-2361cb9c45f6 CLINVAR:406628 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 065a3849-e380-4658-957b-b835aba77d4c CLINVAR:406628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71b6424e-da88-4177-bbec-c3cf1d86d1ef CLINVAR:406616 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66cee328-db19-4015-879e-5bc411d62ceb CLINVAR:406616 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cd8c648-f58f-42cb-be5b-516352784eeb CLINVAR:483227 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9cf779f-e5b2-4e01-b74c-a6aa701f712f CLINVAR:483227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13091715-8fd4-4b0e-895c-428f7291385f CLINVAR:422315 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd425a60-2dab-418f-abba-2841053f8a67 CLINVAR:422315 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ffdf390-fa2a-4a93-9164-de1ea98e27d6 CLINVAR:463742 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e131a8a6-ce13-4438-8ae8-c3b1131f6b13 CLINVAR:463742 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54d4583-a0c5-4c9e-a728-fd9c51a1dcbc CLINVAR:239891 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d9d039f-bf0f-446c-91d0-96e6058c627d CLINVAR:239891 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a80bb13b-b9bb-4111-a8b3-b461afa2daec CLINVAR:231923 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09dfd7ab-3a19-4fb1-b352-86a91391cdad CLINVAR:231923 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ec3fc0-c869-49c3-a548-e4db77e02f32 CLINVAR:567608 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95db3370-d7c2-4358-8219-68b7999f2c4d CLINVAR:567608 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c40ec05d-9276-4408-b0ef-6c723ee3b3c4 CLINVAR:187239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c95afe10-4969-4136-977b-937554c00057 CLINVAR:187239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b415e5e-f45d-49ef-b228-762759f4edc4 CLINVAR:233979 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bed7b86c-1cac-4a2b-a82d-29dd4d648209 CLINVAR:233979 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5436c0a0-a0b2-4639-ae24-56e420e8936d CLINVAR:230451 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b062e162-2db9-4742-81fa-ca97500bf481 CLINVAR:230451 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99a27a99-4c39-419b-9bdc-0802b36a9f1f CLINVAR:156374 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6651d8e9-d516-4849-8eba-6832ebc9b3a2 CLINVAR:156374 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 763ee8b5-3f77-412c-9599-28aeca39bc71 CLINVAR:234595 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04bfa357-d994-45c5-88bc-d44fe510e593 CLINVAR:234595 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 941db728-bbc7-420a-a2db-90c45e2942dd CLINVAR:234594 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81b75e2c-61ef-403a-9a7e-85c9b9354ea7 CLINVAR:234594 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318e2044-571e-40fd-b23a-7dfa464d28d8 CLINVAR:183750 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bc54480-df69-4448-8c8c-862283628e81 CLINVAR:183750 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a6432a-c96a-464a-bb08-9a4d24a592e4 CLINVAR:12240 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4257e922-edca-4cad-9dfe-7327e5cea896 CLINVAR:12240 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c50421e0-d778-4477-9ddc-78e1ff04186a CLINVAR:406646 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f7f3c60-2fb9-4b9b-841e-14d2e5a6b71e CLINVAR:406646 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f05d62f7-b461-4b30-a105-4dfa7a562bd4 CLINVAR:491538 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d23d6c06-d98f-4df1-b1dd-4d8d2b25863c CLINVAR:491538 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1395fbd3-1a7b-4441-aa93-fd1b6473aeed CLINVAR:406644 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8364cdb3-e79f-49c7-bdc7-4f2e41cd57ed CLINVAR:406644 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17164115-c2bc-4d25-a950-1eae62baf7ef CLINVAR:12234 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8497bc76-549d-4732-a698-8ad55270108f CLINVAR:12234 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a39298e-8a59-4f66-a5de-c9732c562ba9 CLINVAR:567085 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66a089dd-5306-4e5e-a6f7-7c49be12085c CLINVAR:567085 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8937140d-5e12-4883-9150-15cc2a0ea906 CLINVAR:182393 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2431c42-1f33-414f-8707-eee36801e779 CLINVAR:182393 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc8fce0-65f6-48af-ba7f-c3d5872a5453 CLINVAR:230948 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adf8ca92-34a1-4136-88db-394b264711d3 CLINVAR:230948 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 890ba0e3-87be-4f2e-93b2-7adc0ed543a7 CLINVAR:419385 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad7d3b2a-08d6-4bb3-b87f-a0b6bf6a8f13 CLINVAR:419385 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe490024-a0aa-4963-920e-0765372ec0c3 CLINVAR:141661 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce5214f7-8a63-45e9-af8b-c18c718aba07 CLINVAR:141661 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3f14c4b-1976-4562-8dd4-fe7f85a3a5f3 CLINVAR:496819 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7778b375-0df2-4699-b3fe-10e1d5d5f6c7 CLINVAR:496819 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0569a33a-a126-4f5f-ab0b-eb8a84b4b499 CLINVAR:428618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b58f4a5d-edb1-467d-8355-d6b2b07102fb CLINVAR:428618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75c81e50-e034-4a10-a515-f955fa06735c CLINVAR:492677 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b67bade-5008-46c6-ad89-0fe0a5c180d0 CLINVAR:492677 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d663053-1faf-48ca-87dc-822e33e2cccd CLINVAR:12236 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7cf2aa55-5c6c-4f16-913e-3f46ab6ffb4a CLINVAR:12236 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 352f4bcb-f039-4a5b-89fd-ad5fc2aded13 CLINVAR:185408 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b61d8711-81cf-4842-b176-7954f757c95d CLINVAR:185408 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb1c4ede-666a-4194-a1a6-31ed33c3bf3b CLINVAR:230956 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 903f829b-d3bf-4bfb-81a0-e922fa5c7a6a CLINVAR:230956 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c698d35-45e0-4920-b33f-82cd424203f0 CLINVAR:12239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e16fc02d-ac78-487c-89eb-8f2b7f739c08 CLINVAR:12239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72600a11-c0a5-4778-a211-ba41c5f866f2 CLINVAR:548782 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47fe7f44-1f98-44f4-a04b-6b97c59489ea CLINVAR:548782 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcbc9e15-3b78-44c1-86ba-96b281b10440 CLINVAR:179479 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 130a72a2-bb33-4c34-a017-d804e9b4d32c CLINVAR:179479 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9baefeee-6f14-4b96-8db9-c6bd023a8498 CLINVAR:141951 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c51c497-c9d5-4e70-9fdb-19bec846363b CLINVAR:141951 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a59362a-1ef4-413c-819a-a1f724afb0a7 CLINVAR:239909 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 401934a8-6046-4376-9421-922d1f4c3836 CLINVAR:239909 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a7cceca-12b1-45db-bfdd-4006c2bad31b CLINVAR:428628 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b6faf12-facb-4017-8f27-0cab2b6e211d CLINVAR:428628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeea4e60-9b14-4793-939b-823a1c2471d7 CLINVAR:279747 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b7cfc5b-98e8-45d1-a705-e06db0712dcd CLINVAR:279747 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a3fd68-5d2a-4fdd-8ef2-169c16b924ee CLINVAR:186618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fb2b159-3998-4ef0-b8c1-a05d65a881ad CLINVAR:186618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 029f8f02-c05c-4590-b5a8-cd0d4655b0bd CLINVAR:43528 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95ff9233-7fc9-4c23-85eb-776caed7862f CLINVAR:43528 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47a94c0c-ae99-4461-a4f2-96ffa9f915f0 CLINVAR:43527 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9a53fca-f23f-4e92-b2d0-21c6070804ce CLINVAR:43527 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f9d67e-9525-4518-a705-b86d6edad383 CLINVAR:255733 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f229c8a9-02ba-4ab4-9e31-ab34a48c0508 CLINVAR:255733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26ce422b-c769-4130-93a9-036d952c246d CLINVAR:616 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15d5c784-086d-40c6-b36c-557890f5ce81 CLINVAR:616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f7b3419-9841-4235-bd48-1c1ddcb19b74 CLINVAR:430401 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 813e2558-3ed8-4673-94e5-adae4e4875bc CLINVAR:430401 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 177023c8-a216-4900-81f8-8ea2b4612127 CLINVAR:194161 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c207573-f260-42e7-a6dd-538d74356007 CLINVAR:194161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfdd07c7-ad0a-4dbb-bfd8-e912e0633930 CLINVAR:102565 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d90844d-2ff4-4ade-b5f4-83da616ae73b CLINVAR:102565 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e02e33ea-9ad8-4900-8f5f-0255b8ce2ca7 CLINVAR:439227 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b636ffb3-d93d-4771-869f-5614595f1298 CLINVAR:439227 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae76fa6a-962d-45b2-a723-6fa4f96dd98d CLINVAR:102674 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf07405e-4319-4092-97e3-6ce9675190c9 CLINVAR:102674 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6870b9c9-c703-4cb8-801a-2490d4e62236 CLINVAR:102633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aac3aa14-837e-4ace-bd32-84303e86ef35 CLINVAR:102633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a86722-3a58-4218-827f-a2c36039eb09 CLINVAR:120292 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a31cb36-9420-4da2-9434-187e9bd7b14c CLINVAR:120292 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b39a56ed-168d-4e77-8149-d8b42be19f4d CLINVAR:120296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 777fca01-f186-490f-960d-e652517d7b2b CLINVAR:120296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15cef055-f488-4719-8aa2-e1873f58c9d4 CLINVAR:120268 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed29b917-9894-4c7a-8255-8b9cd00315af CLINVAR:120268 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3194a3a6-f2c7-4dac-9ee8-78eeb0276cac CLINVAR:102608 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c58d037d-4692-4dc9-9c19-f26396ea3886 CLINVAR:102608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e58ef6da-97e4-4d8d-bda4-86fb2609d66b CLINVAR:40842 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f3350fd-4796-4686-bb2a-84c1dd346000 CLINVAR:40842 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ba481a2-3105-45ca-b3b9-75006f25f5cf CLINVAR:181510 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9cb09fab-b527-4c6c-8869-ca2838f4f85c CLINVAR:181510 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 664f8f4e-99bf-4c1e-a13d-d3086eb1a0a9 CLINVAR:180859 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7b7f487-7154-4c9c-903e-14ba9cdd9348 CLINVAR:180859 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f8b71cf-1f18-4891-8f77-56e419abcde1 CLINVAR:830078 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cdf0bae-858e-492a-9751-4aea734c4f82 CLINVAR:830078 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc47063d-5d69-4a48-85cf-cd71f38c1aed CLINVAR:438172 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01a2d40c-3592-4784-9d12-ab30b6932212 CLINVAR:438172 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a21d681-120c-4f2b-a496-61fae4fbaf3d CLINVAR:45366 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ac8075f-b5ff-4b28-9372-36af8e417c83 CLINVAR:45366 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a058d5-2d92-46c2-9240-d4682884bfa7 CLINVAR:4928 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c6a456b-1761-4677-8221-f64ae2744174 CLINVAR:4928 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb408411-6df7-42da-b2a8-0cf2794d786b CLINVAR:590799 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b883424-fef2-4e72-a0d8-af66108d8f23 CLINVAR:590799 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a13535d-295b-417a-a68a-779eba8f31ce CAID:CA16020920 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48bedf37-ddd9-422b-ac45-2e5337c7093b CAID:CA16020920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1e73e1a-9eee-4154-b31a-217366205e72 CAID:CA6748732 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18b3f7ad-b957-405d-b9f3-fc3a22dc2ab0 CAID:CA6748732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d538cad-e9d5-4d13-bcdd-ab83655ddc9c CLINVAR:4926 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98420c80-9725-48ae-9826-3d1db9fd8205 CLINVAR:4926 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d103c8b7-2877-4d70-bf2f-aec2928cd00d CLINVAR:48503 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68ea65bc-f414-460c-8e9d-dee20aa764a8 CLINVAR:48503 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bbc8057-fedc-4b34-baf5-11512b0278fe CAID:CA16020771 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c55c295-07d3-4830-b606-b2ce2f4aa919 CAID:CA16020771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d9c1d60-8f86-4766-9a8a-719d1b4c362d CAID:CA16020929 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6956702e-ed45-4a6f-9948-de8cc759e60b CAID:CA16020929 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7575594a-bf65-47bd-9de8-16fedc971c5c CAID:CA16020930 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aad7f35a-5af8-48f1-b267-83f206ec39b7 CAID:CA16020930 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ea6568-7dea-4efe-9bce-dd4beb71eb8c CLINVAR:604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbef1a6a-80e4-49ff-bc67-61c1eb3f4632 CLINVAR:604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30f309ac-3452-4263-922d-295c8612cc08 CLINVAR:102672 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 775e3eb6-86cc-41eb-a480-694bd363bdc9 CLINVAR:102672 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 000521cf-9ea8-495f-805c-99dde52bee35 CLINVAR:438177 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 472bcd66-88d5-4873-a23c-7556ce2d50ae CLINVAR:438177 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f36e7d-9c20-42fd-8f63-4b1fcae16bba CLINVAR:430229 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a93a71a8-376a-43f6-9406-8853af15d0ab CLINVAR:430229 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5415817-cdfe-4323-834a-36ca03eb249a CLINVAR:179773 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 873e8116-8682-4a7c-a259-c30790439667 CLINVAR:179773 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c8a2b1b-fbda-473e-8b0c-ac8742f58697 CLINVAR:48395 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b24e5e89-c5ae-469e-bbbf-10de77ebdfbc CLINVAR:48395 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77a31fb0-7ee0-4af4-9ed6-54d597062caf CLINVAR:226441 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 774b875b-7050-4fa3-b482-b20ad699cb01 CLINVAR:226441 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfed3606-9c72-4fdf-80c1-a310a56dd489 CLINVAR:43521 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d96f855b-e6c2-4823-ac6c-f8985fade00f CLINVAR:43521 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d1d0cf5-07e2-4182-9032-26309f28cb2e CLINVAR:43186 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c545783-f19b-4c86-8094-2690146e40e4 CLINVAR:43186 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c907546-f391-4b04-8530-423ec0227268 CLINVAR:48544 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ca2f968-83f9-49b6-8f59-47dac486f09f CLINVAR:48544 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63752a3c-5e55-401d-93f4-6ab8178d9a20 CLINVAR:48417 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f40b850f-98cb-4693-855f-a875b5502321 CLINVAR:48417 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ee767c-aa0c-4546-b1b4-f024a77297fe CLINVAR:429984 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 533954e5-876d-4823-8a57-2a748d33984b CLINVAR:429984 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19a0308a-2b1b-4557-85d9-b87abc3f2146 CLINVAR:290125 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a1b2e58-27c0-438f-886c-3f91477c944a CLINVAR:290125 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbea8114-c325-4a0f-904b-3c4474636105 CAID:CA16020924 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a1d8ff1-f2ae-4fa5-92e0-8db7d2faf63c CAID:CA16020924 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db71df41-7c0a-42ad-81cd-9132b5ce0490 CAID:CA16020966 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 951c9f39-aa7e-41a0-bc84-16c3227973ae CAID:CA16020966 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25018181-c637-478d-a301-ecc8139732bf CLINVAR:102589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc1512a0-883f-4ae0-a9fb-41c8f41ff751 CLINVAR:102589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9455bc99-1cc0-49f1-b45f-6f0a7251deda CAID:CA16020931 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef0fde19-4010-4a70-bc62-98a55f8d4073 CAID:CA16020931 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 744fae72-286d-4d3d-a52a-7b0c7429ca51 CLINVAR:102590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70ddee43-8cd0-480e-a817-70e32a89c03d CLINVAR:102590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9241a360-2d71-4e20-8fc6-58f24cc43378 CLINVAR:585208 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ff68c58-acc6-4107-9ebb-0b1a2a96e701 CLINVAR:585208 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bfdb3ef-1e2d-4f68-af14-43dd762b59de CLINVAR:120293 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c649396-a5f3-4d94-b4aa-db51e7ec29ca CLINVAR:120293 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86c7d7d6-cd02-4cd7-9661-49fb48a420a4 CLINVAR:120295 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 751cd5bd-eebe-4f2b-9998-a0adb53c1647 CLINVAR:120295 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c1992ca-ae3b-4b6f-9059-0361916a14d8 CLINVAR:120294 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 376eb8ef-5910-41e9-a45d-822d5a762a72 CLINVAR:120294 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 655b21f3-4a00-498c-a8bc-dd46bac90821 CLINVAR:549954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa44badf-d3f9-497a-be88-862e4de77b87 CLINVAR:549954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db97b32f-d960-4b48-8a65-59c956a76de3 CAID:CA16020754 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1131261-9c94-4013-9ef7-4bbec7222e90 CAID:CA16020754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f29f2e-35e1-48a9-9bb1-7e67ce0f1216 CAID:CA16020755 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38fee9ca-9f20-40e7-90c1-2f014618595f CAID:CA16020755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57835910-b7dd-408b-95db-be16f28ee03b CLINVAR:872832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8da3ef2b-3988-46ec-b24e-6ab1682961be CLINVAR:872832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b01242b9-b02d-4aa2-8d1d-7b4e6ed9fe73 CAID:CA16020782 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cc833e0-1d1c-4e1d-913b-764d78135273 CAID:CA16020782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cda6a4e-0bf8-4168-9134-f2ab97724fbf CLINVAR:872834 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d43ab454-53d8-4a39-bc9c-13b7d719fadb CLINVAR:872834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111b7441-9f3d-4f9f-81cc-fb2b5cb17f61 CLINVAR:164724 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 723c3be6-ea8f-4d8a-b008-ace3ef0ce0be CLINVAR:164724 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de6bf16f-e62a-4f15-a9b3-92765d7c3e82 CLINVAR:178667 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed92d8e0-74f8-4023-828e-bbc853c7d288 CLINVAR:178667 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3b1a484-acd1-4795-8417-fe3855b1b942 CLINVAR:43335 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3672f96a-08e1-493f-9085-53f73dd19a2d CLINVAR:43335 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8fa584-64b9-44a9-a49f-132467b08bdb CLINVAR:43541 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 859cded4-8730-4338-b95c-ba418bc7fb01 CLINVAR:43541 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 750e4a34-e919-471f-b256-fd05e373a07f CLINVAR:208366 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0d8c71a-84a6-47eb-83f1-36794e5b45d3 CLINVAR:208366 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1549dffb-7653-44ec-b444-16fcca19a678 CLINVAR:43292 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2a150da-c16b-4c30-98c9-fa9b51f61102 CLINVAR:43292 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4735f6c4-278b-4135-b5a4-0977baafda20 CLINVAR:422345 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73a647dc-dc91-4b7b-9626-4b1f62cd86fb CLINVAR:422345 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3298e9a-8c0e-4090-819b-3e03c027ac1e CLINVAR:228484 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6c682e3-1ad9-4b9a-8d0d-91ff93a959fe CLINVAR:228484 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb66f4ec-d289-4591-995e-d8754f218860 CLINVAR:228500 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb8275f3-c3e4-4587-9b3e-635b686265d4 CLINVAR:228500 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c89946e-b2d3-4ff8-a423-93cb191d121d CLINVAR:181547 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46335863-c3fc-4d20-9b3c-455239d2fdbd CLINVAR:181547 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b493afcd-78a3-48ec-a06c-479a8c883b93 CAID:CA378386067 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e180c6e-7e30-4db7-9f39-7ed1d6e34c76 CAID:CA378386067 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00839688-04bd-4604-9ddd-d705cc29d437 CLINVAR:428277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dff3b54e-7f84-480f-8d21-2c8bac83f518 CLINVAR:428277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c7355e-7aaf-4a7b-9bda-3ec447ff56d7 CLINVAR:142878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d950483f-817e-4d0e-b845-dfc1c8b96c3f CLINVAR:142878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16125944-1d3b-45ca-97e4-e2a7dade70b1 CLINVAR:40498 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfc705c9-c32d-4f17-b3b0-e05959d685e6 CLINVAR:40498 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75691a84-7fba-4841-900e-8078c53b913c CLINVAR:279960 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d62a7fc8-83ba-4623-b352-3315251e90ab CLINVAR:279960 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca1a7926-1e3f-415d-9137-56e857b627c2 CLINVAR:13341 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c2beb74-b164-4af4-b736-fd4622108654 CLINVAR:13341 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c7387ba-0535-4c2c-bdb8-e5beac270d7e CLINVAR:484600 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a06f39cf-2ec0-480e-9146-fc7176760a88 CLINVAR:484600 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d186e87-21bc-4d71-82a2-ad9a756f64d2 CLINVAR:142018 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60d79ec7-ef17-407b-8373-122930fe6c23 CLINVAR:142018 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86e5d27-8746-4daa-9b8e-ec4cac412199 CLINVAR:234144 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8e245c2-222c-4ed4-80c7-8ffa48c699d0 CLINVAR:234144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcfc51d3-033b-4080-a668-59e5ecd250b4 CLINVAR:404168 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccc20d9d-7364-4765-b024-9dbbba78edef CLINVAR:404168 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f0d38ec-85f5-4cfa-953b-afbe2786fb23 CLINVAR:102573 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 982776fd-f0ce-4a73-bee3-170c92761fa3 CLINVAR:102573 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b407dec9-2d00-4680-a02b-0e599907f75c CLINVAR:629 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f8b91e9-8af7-4cd3-bbd5-9cd236594825 CLINVAR:629 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f724f65-9770-479c-84c6-7b30dd6391bd CLINVAR:102680 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 373ff23b-2460-4a90-b17b-477d3b6c514b CLINVAR:102680 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 981d6948-9c51-4fb9-b7ea-91f90760949b CLINVAR:102685 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f707f01-6f56-43a3-8833-7c67deaaf674 CLINVAR:102685 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fadc5121-c6cb-4da9-8257-62544247e65a CAID:CA16020948 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7beb7341-c918-4aa9-8167-a60be4718f5b CAID:CA16020948 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52cfd98f-805e-46f4-b98f-871c9ad67203 CLINVAR:102915 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e99c76e6-185f-4fd8-bf09-917e96714cda CLINVAR:102915 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48dfa4e7-5e73-4eb3-90bd-ccbd23a0b89c CLINVAR:872836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9a2579a-7782-41a1-bee3-c46dd7500765 CLINVAR:872836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 423cddcf-95bd-4e13-b85b-0005a348447d CLINVAR:427599 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b84165ec-165d-4566-a385-d516137af5ac CLINVAR:427599 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87dd1e19-54a9-493b-8b42-8a79b4d1e9c3 CLINVAR:428256 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e09fb950-d916-4348-9647-27095b094b6a CLINVAR:428256 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09de36ec-129a-4067-92ba-0d0b502caf3a CLINVAR:127688 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9bde234-1f42-4f38-be2d-d801069ed1f2 CLINVAR:127688 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60bd39db-c3ff-4331-be1f-5e4e36c24fae CLINVAR:189415 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83ca3097-76c7-46f5-866c-438a1caec882 CLINVAR:189415 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc2a4bb-8939-4e73-8bbb-f800667405f2 CLINVAR:404160 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31f6e4b5-6f68-4871-a9c0-1c0a826d36bd CLINVAR:404160 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88b9d21a-1844-4b6a-a5f7-f4c4affa09a6 CLINVAR:418653 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9706eb59-8bde-487b-8a6e-7cfc0260a5f8 CLINVAR:418653 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5d55b5-c4c0-43de-9d61-abfb9a9db1fe CLINVAR:421055 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0971407f-0b03-4890-84d3-be32f559d96e CLINVAR:421055 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4551e95e-2272-4380-8aa8-e3d07a4d0d1b CAID:CA410202469 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db1f8c51-f09e-453d-9c24-fc5d21684889 CAID:CA410202469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c56387cb-ec03-4daf-9702-f5ea61940d78 CAID:CA645614124 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ab21595-79b5-4671-ad29-1cf90a48b482 CAID:CA645614124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a13e4f-725a-4b86-bd94-2b1bf6e636ba CLINVAR:561253 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6cdb7bf-a77e-4206-b670-d582f1aa53b4 CLINVAR:561253 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df89472e-4696-42c6-994f-81c2dfee3c3e CLINVAR:627342 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41d184bc-eb4d-4b61-a390-c3d84049a0cb CLINVAR:627342 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e0432b-b8d6-475d-b8b9-8cb90af634ba CLINVAR:869209 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2197ed6-cbea-49eb-b8d8-689dc9815f24 CLINVAR:869209 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 047a6e46-be71-4db2-b2b4-8b982f676a38 CLINVAR:869210 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1449b872-7961-4d8d-a602-e8f05d688861 CLINVAR:869210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0971a7c2-28e8-4842-bd09-228aeeb4b7ff CLINVAR:618862 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a8ee8e0-301b-4c0a-9fb9-5de6bb851a37 CLINVAR:618862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e35d7873-6434-4c8a-b7a4-171ac3a195a9 CLINVAR:234282 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9e09c38-d7d8-429b-bb5c-8fc3700497ac CLINVAR:234282 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22e368ce-e23f-489d-93a2-4ed54d3f57e7 CLINVAR:422227 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c28357c8-4463-4cb7-92c7-9a63feebe09e CLINVAR:422227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2520e8ee-8069-4603-9131-82299e2277f0 CLINVAR:420004 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c1fa561-fe8e-40a2-ac62-20e07c69dd68 CLINVAR:420004 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed97cfd3-6746-4d15-9129-743247cb2716 CLINVAR:463795 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de0caffa-8efc-4df7-bc44-9bacf7c1419a CLINVAR:463795 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 168e4dac-d379-455f-8003-175af3b3d074 CLINVAR:437928 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a87b2b5c-31f1-4f7e-8123-cd22900a191d CLINVAR:437928 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46941f37-411d-4f7f-8142-f5fd62f1f9ee CLINVAR:229907 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d584354-1c0d-4802-b772-bc1afd05b83b CLINVAR:229907 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3e9446b-0555-40db-a046-1d1cc8cf99e8 CLINVAR:231528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fb07ed4-049d-40e5-884b-84993108d67f CLINVAR:231528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07832601-9c01-4142-a076-e7dc1c224981 CLINVAR:224528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3df56083-7846-4d9f-bcb7-7eddd26611ff CLINVAR:224528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 656cc12e-0e85-406c-b4db-f1154042256b CLINVAR:428620 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e51e7e17-217f-4331-8018-15b8a7eca0ec CLINVAR:428620 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e96bb5c-593f-462c-8dba-afecf75a0e73 CLINVAR:220776 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23cccd2f-c01c-44a1-8547-3988aa37482d CLINVAR:220776 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def62481-b222-4659-a8e5-c32f7e2c1089 CLINVAR:428626 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 979477d8-487b-4c59-8f92-c22b01d7f068 CLINVAR:428626 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 543d7898-7cbf-4b99-8698-bd10728fd799 CLINVAR:463772 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f72eecb5-4721-45f7-9f1d-b5b4ffd4aec6 CLINVAR:463772 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4054ee0-1af5-4764-9623-d74df4fa01cd CLINVAR:406624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70545161-0244-4414-a44d-e7b7b53cf0e3 CLINVAR:406624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc85094e-8482-4bc9-a78a-833a9bff3bad CLINVAR:463790 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7d33876-fb02-42c0-980f-68bf3f0bf27f CLINVAR:463790 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 418f6019-c35a-4088-88ee-2d0bbad70ce3 CLINVAR:569046 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 711b7b3c-fd83-48d2-b332-10fec746db0f CLINVAR:569046 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45962098-d344-4b62-afc9-9eab128b3d5b CLINVAR:239903 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92f95295-0732-4c5d-9623-044a0d6fa03c CLINVAR:239903 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b81c9de6-ce29-41b6-a035-fe6c8f78aa4c CLINVAR:463781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be4a8227-9729-4ecf-8dd0-a79664f3886d CLINVAR:463781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 485abcfd-f77c-4991-b59d-6e2dfbb0cb56 CLINVAR:418533 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad8742c7-4776-4630-a328-be41ea713f2f CLINVAR:418533 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 686ec775-48ba-4fa7-b96e-0d45f7f12d25 CLINVAR:281818 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7a40bb5-2e18-41f5-9838-a3a418bd5182 CLINVAR:281818 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f8ea8d6-791f-42ee-824e-411e4686ddd5 CLINVAR:133312 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0ea1244-fc80-4b30-86d8-9bd50ccc1cb1 CLINVAR:133312 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78ec7a49-819c-4f59-a321-fde02d0be0c6 CLINVAR:196222 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd5ea2ab-bd4c-4999-ad1d-c08a11663823 CLINVAR:196222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 277cf4e6-d454-4a4c-92f4-f86e8e3619ba CLINVAR:325774 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61df70f7-6743-419e-99f9-a71bd1b380d4 CLINVAR:325774 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59e31ac7-0aec-4177-876e-517deba267b7 CLINVAR:557429 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02ae77d8-b0a2-43e5-80e3-8704279716e8 CLINVAR:557429 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d00d9a-6ddb-4be5-93ff-11e7fb5f72bf CLINVAR:230112 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cf6c83c-87a2-4d6d-b0d3-582ebb0d34de CLINVAR:230112 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eae69204-abfe-482f-aa11-b61d79105297 CLINVAR:406578 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7763f14b-ce53-41cd-9bca-3de24de5797c CLINVAR:406578 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b21cdcf-bd9b-4b59-acbe-d359d340f3d9 CLINVAR:127819 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5684181c-c152-4b59-9370-f88fc302ecfa CLINVAR:127819 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a64f43b-60d4-49c3-bb2d-d2157dc45d04 CLINVAR:142766 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc08b675-aa6e-4fbc-b7f2-6899ce6ae093 CLINVAR:142766 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c5628a2-1e29-4a63-9a4f-058a54b0b4e3 CLINVAR:245711 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 891249db-5939-4041-89a2-db9912d83cb7 CLINVAR:245711 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d42e335-5ba1-44cb-a492-3363e3bacda8 CLINVAR:233951 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3abd64c-f763-482f-b6cc-9bcf66c518df CLINVAR:233951 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce8a9cd-d53c-43eb-81c3-a47547226ceb CLINVAR:127814 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96867fa5-81f3-4ddc-a971-9c389c203ff9 CLINVAR:127814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03716655-ae19-4414-9144-bf0a3d20365f CLINVAR:376615 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f8bb324-b0e2-4d02-a4e5-795adcdf649e CLINVAR:376615 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a6ae6c8-c3c7-4df1-9045-e862792efd1d CLINVAR:12375 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 745ec7ed-8393-4192-9274-1520e8b373de CLINVAR:12375 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0b44713-d633-41ea-a0c3-f05119dbddb9 CLINVAR:93323 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c71fbfbb-0a9a-4e66-9547-a29813703b47 CLINVAR:93323 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64c00e71-7117-4df3-b98e-122e11a1aac0 CLINVAR:12347 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a595248-0ec5-409a-973c-07f095b8a366 CLINVAR:12347 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf5e5755-206d-46fc-b20a-c7371cc60cab CLINVAR:43587 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2225800-3ed8-4cd4-b3cd-91fc82b02ce8 CLINVAR:43587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c71b8855-9580-4d24-845f-cf6018f5f79c CLINVAR:230253 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4008376-b244-4473-97cd-33b5961363ee CLINVAR:230253 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89feb20a-420f-4675-98e7-370fe5708649 CLINVAR:482223 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22949333-3bff-451f-8c6f-2070b2211856 CLINVAR:482223 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc923df6-4f03-41a3-9f21-9d867ad2bada CLINVAR:376563 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 685d05ea-a8ef-4dd1-80af-5eb104debad8 CLINVAR:376563 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b27874-9211-4828-8c47-240bfc2c578c CLINVAR:428898 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db0540c7-ab6f-489b-bd88-fbbb11d9fb6d CLINVAR:428898 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09313be2-a50e-4a19-9d78-b48ffd9f1780 CLINVAR:458537 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a823bdd2-51b4-4d9c-bbfd-85d51c647b48 CLINVAR:458537 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e2bdc85-90a1-4c50-8f30-7ed8cf691788 CLINVAR:804214 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cee2fb7-be06-42be-9b6b-4830446b06a8 CLINVAR:804214 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 326c4ea0-6ae2-49eb-a977-decd62752b3e CLINVAR:12366 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abaa1c6c-bf8e-4c81-8276-ebb4a8e72f15 CLINVAR:12366 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f9c893a-d294-4880-b4b8-63c9b94675ae CLINVAR:12356 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22bb19f0-389c-4804-a1be-a2712dce3dd2 CLINVAR:12356 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2e85f62-8986-48d9-a3f9-6408d068f17c CLINVAR:182969 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d6228ac-fc05-4a52-bf79-7d41daac1ab0 CLINVAR:182969 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f89f32f-607c-4fa0-a1b7-20fba2e5586b CLINVAR:376612 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aeadff3e-184f-4e42-a205-f5ea766d4258 CLINVAR:376612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ce0b66d-4533-48a8-a564-12dc2ac2d06a CLINVAR:102752 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5186b099-2e57-4c28-8ecc-78136a9e6ef5 CLINVAR:102752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055ae394-e932-4faf-a879-594455100b6e CAID:CA16020725 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd72acff-f3fd-4f76-8727-240116a2ec79 CAID:CA16020725 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 168a38e5-d0ff-4c0b-bb00-3c21a4772fe0 CAID:CA16020790 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d11ec5ce-b521-4297-a734-b55d0f271249 CAID:CA16020790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e6241a-fdb1-4b64-ad26-a533514552ed CLINVAR:619705 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8996fada-e0fd-4f83-9960-cb2bb3b8bd99 CLINVAR:619705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e70c7f-9c13-4684-9eea-5c9e9c15c355 CLINVAR:102684 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcaa7f45-d4d0-43ac-bb5f-c40dea71adf8 CLINVAR:102684 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f60532-7854-4c6c-b033-a3484d088dd4 CLINVAR:102662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90aef0e6-47d2-47dd-b0ac-7bd4c66fba61 CLINVAR:102662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beed7fd5-1124-4204-ba93-fd11bd508883 CLINVAR:102722 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4665959a-abc8-4247-aa8c-b8bfcc6520af CLINVAR:102722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f14bfb12-23c5-4086-ae57-70a01b667c87 CLINVAR:286662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 592b115e-5c7d-45c8-b30b-3f5d8e3fe928 CLINVAR:286662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6dffd0f-9669-45a8-a691-c53d813cf66b CLINVAR:422049 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07548f0a-d065-4e48-90d2-bfbabc072067 CLINVAR:422049 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c87c960-76e3-4ebe-989b-c85c33c24482 CLINVAR:102916 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 573e7aac-01b4-4837-8102-9797774438d9 CLINVAR:102916 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad7c43a6-bf4b-4a65-adf3-6cae33f665c8 CAID:CA16020739 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb9ac0cc-0173-4b34-a5a3-46088742fe5e CAID:CA16020739 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b00766c9-f58e-423f-ac52-355186bd29c9 CLINVAR:501777 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbe868fc-f83d-4702-ad4b-a2c9db1e8df0 CLINVAR:501777 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e51c76-730e-4c0f-ae3f-8f1666788a0a CLINVAR:526521 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdeb900f-94eb-4afa-ba9b-548036d2d256 CLINVAR:526521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa026b93-32eb-463f-853e-61fe460fad2b CLINVAR:286458 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b860d01-112c-4b58-8081-148089122c86 CLINVAR:286458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9228295d-7165-4785-8d40-2bc8a1c4f712 CLINVAR:283971 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e180008d-0887-4de8-bd08-d0dd3dc591ff CLINVAR:283971 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7e23f6e-6e9f-47b2-a8e5-83a75ee7c5d5 CLINVAR:288505 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9aa09286-1248-447f-bebd-68f0c0bdecc7 CLINVAR:288505 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1df27706-fc25-47d1-9552-212fb6715157 CLINVAR:188936 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ee01c50-38b1-4725-852d-466bb28b2834 CLINVAR:188936 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6591108e-f876-441e-998c-8f15573583ef CLINVAR:188904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0586606-46fb-48d2-9603-0398efdf9fa8 CLINVAR:188904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f811fcda-adfa-4bb5-935a-9f174956c554 CLINVAR:189025 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7144af93-6e29-443c-8f96-76260e31719f CLINVAR:189025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc3062d-96b4-40c6-aadb-b0f5d28baa64 CLINVAR:189009 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 281f8495-058f-41d0-8ff1-175ea8a8a1e3 CLINVAR:189009 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ab7c95-eb1e-46bb-8b0f-1f52afd5749b CLINVAR:526535 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a3eae9e-e38c-488d-bd04-b406a9e8195a CLINVAR:526535 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b5ba05-6794-43c2-96c5-7f4554be7e88 CLINVAR:550713 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b89e8a8c-b7f3-4bd4-9df7-41b0974932ba CLINVAR:550713 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4111cdac-e924-4d66-ba58-e9e34dacba97 CLINVAR:556985 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2df6d336-da20-4308-b9e2-6bf4589e5103 CLINVAR:556985 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7199d797-0658-4048-8b2a-598066a34cd1 CLINVAR:932898 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d8701f9-7461-4b90-a742-5efd35394307 CLINVAR:932898 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95989602-8a60-4df4-a6ab-e7dc88053183 CLINVAR:932901 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2d7ecce-4e18-4f26-87a0-0cb059e44307 CLINVAR:932901 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 236eb6f7-77d2-4776-942d-ec0954f86dcc CAID:CA401361056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7815d1e-672d-4c2b-ab68-63a7c595d415 CAID:CA401361056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac8da28-87dc-4a3f-8d02-3aea2e81f604 CLINVAR:495665 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9347ed7-73ed-4967-8fcb-68d0404bd7dd CLINVAR:495665 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47133619-24df-426f-89c2-61ff1de122bd CAID:CA658795235 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba52aa8a-5baf-4f13-afa9-946a9b001c68 CAID:CA658795235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de4cb8e9-cacd-4e0d-9fed-596b8f9eb84e CLINVAR:370357 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b13c86d1-674c-4540-a2d1-7edd77db3a01 CLINVAR:370357 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc5339e-f157-4584-b590-23170e34b0ea CLINVAR:370124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d563099-36ce-40f2-8211-957597a8b8c8 CLINVAR:370124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 878e6e67-cc37-429f-a3dc-7236c82e0b6e CLINVAR:189144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fd60bfe-9caf-4e0d-b64c-7dddb8ef5af2 CLINVAR:189144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6258cfea-74aa-487e-bb6c-c711b18163ba CAID:CA401364293 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a5134ca-3dac-48b3-b59f-aba88fd6d9ba CAID:CA401364293 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08eb2ecd-e5e0-4e5c-9455-0173645fe8ed CLINVAR:574052 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87482eb0-4258-410b-88cc-f697abd7695a CLINVAR:574052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb07efeb-66f6-4fcd-b1a0-bc3f9f937fb9 CLINVAR:556975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46f34234-56be-4ce2-b6a5-176efe6a62e1 CLINVAR:556975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c26471fe-123b-422b-8f6b-7f49406da547 CLINVAR:102894 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4c50d7a-2ba3-4b73-9994-af61c31d1f3a CLINVAR:102894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa69852-b1ee-44c2-a53f-d88ff74c91c5 CAID:CA16020887 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ec4b517-87b4-4c86-875e-3e3ecce800c2 CAID:CA16020887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a8b052-264e-43df-ab0b-a7bdcdef669d CLINVAR:13329 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e389e7a-053d-4b60-87d7-d2c9dbd9df42 CLINVAR:13329 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24e31dfe-05a0-4af9-9bda-7dc179a69351 CLINVAR:43568 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea011bfd-f316-4299-8ce0-287b18b2703d CLINVAR:43568 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d442ed-cdb4-472c-abc5-090ca36abe61 CLINVAR:43495 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab6fa8e2-e55c-40e2-a4a9-9a5def2b40de CLINVAR:43495 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 337a9566-2c5e-485c-ae17-c1a33956fbbd CLINVAR:371781 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aae7a8cc-10a8-422a-8c33-d0eaeeed0c5b CLINVAR:371781 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06af820b-9cd5-41b5-a399-b6077155d8e9 CLINVAR:178283 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3e2f945-5437-4129-8ea1-bbc031cd56f5 CLINVAR:178283 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ef1b963-94bd-4591-b7f9-0579b5f0a2bc CLINVAR:92756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3aa6a358-349a-414a-981e-2e1ef40d8ec9 CLINVAR:92756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7452baa3-ba4e-49f5-9fcc-51049c1b2cbd CLINVAR:265979 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbccecbe-7e08-4ec2-8891-6bf37e6a1950 CLINVAR:265979 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b031cda6-439c-499a-917d-f1117c862d48 CLINVAR:549981 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1761a958-ad42-4a45-a716-11ecc896e96f CLINVAR:549981 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffb8e8ba-c7e4-48e9-9aa5-46b64fe4f65f CLINVAR:177844 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 517bbf7d-9dff-4baf-bc8f-5f37ffcfc3ab CLINVAR:177844 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a02cffb-93dd-4b8a-8c63-a12932e0ed54 CLINVAR:13975 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ce947d3-eb30-477d-b363-ef68ca16d67c CLINVAR:13975 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d08fcba-49de-4e8a-9599-f945934ba6f9 CLINVAR:40370 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d386b03c-9bd0-4be9-b03d-bc068a61fe12 CLINVAR:40370 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a4ba2c-1d90-4e69-b6fc-6ad97714893b CLINVAR:225136 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb41871f-b4fb-4a19-8bef-f2369d802d2c CLINVAR:225136 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f543e99a-0add-474f-ab7b-4ace2131b532 CAID:CA16020831 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e3a09a3-b6bd-488d-afb0-2307f1f2b534 CAID:CA16020831 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88b97ad7-7a2a-42b4-af41-be3ad63a1295 CAID:CA16020832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84ab559f-da19-403e-909e-51b16435dd8f CAID:CA16020832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c383b67f-3435-4715-aebe-67ab7961a33d CAID:CA6748883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb1a8de8-4d12-49e3-870c-b85bad258436 CAID:CA6748883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e99d676-ca22-420e-931b-3d0ce049c1e5 CLINVAR:177876 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0581ea3c-a84f-4f37-b802-47fbcbda4e88 CLINVAR:177876 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 244e03c3-6d58-4910-b8ac-7af97ea8faaa CLINVAR:41443 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b145aac6-a19a-4083-b441-d504351a8823 CLINVAR:41443 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a1488a-979f-4e13-80ce-8429cec84682 CLINVAR:13964 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b0a027f-78f4-4ad4-8839-a7718e9b5cc5 CLINVAR:13964 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 564872ee-1c86-478a-b152-2670c918a1f0 CLINVAR:561347 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1f98ca7-477e-41dc-8312-c20a362eb2df CLINVAR:561347 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb6cd78-daab-4714-89c7-47ab39a1e7c3 CLINVAR:222774 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8f9bec9-c19a-4791-aab1-f1aede95e6b4 CLINVAR:222774 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf117cd5-66d4-4904-8221-10b99bcba047 CLINVAR:477722 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 580605f6-7c20-4296-9f08-0715c8e85aa8 CLINVAR:477722 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6093536b-d2cd-487a-8fb5-8e0edf5eb3f4 CLINVAR:359048 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bea832dd-9d6a-4ea9-b7dd-343b83374a96 CLINVAR:359048 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d1c6ae-c29a-40a0-8d33-c1e9c46a4c19 CLINVAR:40654 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 331e4e66-dccf-4a8b-a6d8-58ed4ccb2f80 CLINVAR:40654 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecedcf5c-770e-442c-969b-aca9f33913b5 CAID:CA16020836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61ca02a1-2b6d-4bd5-98e3-7aa2e055bf23 CAID:CA16020836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd6d6688-a862-4b6f-a6b3-c913c652054e CAID:CA16020854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f91b79c4-6545-4ff4-be51-7ac8b2392ce3 CAID:CA16020854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5db4a260-0627-4a99-90d3-3efdce046de7 CAID:CA16020922 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b2c153c-5c43-43ec-91da-7a58c0ead5fb CAID:CA16020922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec98cad5-065e-404e-b6ef-adfbfe0d7169 CLINVAR:228282 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76efe75f-4a0c-44bc-a1ad-56ad99844da6 CLINVAR:228282 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b38d0e66-ff26-4b44-b6b3-4e24f0f5f005 CLINVAR:229012 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b38dcfd-30aa-42ac-91d2-8382fec0001e CLINVAR:229012 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaedc12c-f1ba-41c7-a059-1bbb870af510 CLINVAR:43185 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 101f17b8-e512-43c2-8c40-5b32ad668a3e CLINVAR:43185 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b3d9a2-e5c6-47b0-b742-b8dd06b75622 CLINVAR:569590 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e687e03-c1f0-43ff-8cae-e6917ccb6e4e CLINVAR:569590 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d00941d-a692-496e-8ab5-f1705076aba3 CLINVAR:181553 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cce47b1-2c05-4f90-b5fb-ac6b75156d58 CLINVAR:181553 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e5e6141-542f-4926-9f7d-c457e195e34b CLINVAR:561935 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e18e71ce-51d2-4102-ac3d-2e1fa855a7ad CLINVAR:561935 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3a5b09d-8a7e-4b9a-a9f7-78f02a176118 CLINVAR:228273 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 364a7f80-14ac-4f26-9f69-89907efe61cc CLINVAR:228273 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb29a38-64e8-4be7-887b-0e4399c04643 CLINVAR:40388 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67f8a41f-1e6d-4cb0-8f1d-8241bf4053f3 CLINVAR:40388 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c1ff71-4a65-4fb5-a5ff-6a9b9e7410aa CLINVAR:280033 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9138f169-6551-4ce2-aff1-7d4d3dc3614e CLINVAR:280033 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5635fd4f-e903-4dfe-b605-734ce48cd034 CLINVAR:280939 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eca0a441-b994-4558-b7a1-f64eea71e756 CLINVAR:280939 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63817eb-cafc-497e-9669-7b1355b0e3f8 CLINVAR:575203 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e06e374-5347-4448-99d4-afd0a16c2a52 CLINVAR:575203 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fadbb03a-f888-49ad-88a3-1ee44f538952 CLINVAR:427613 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5ff1a44-160e-4f51-b7c4-3a565270a35e CLINVAR:427613 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d372d50-be79-4912-9d11-dc39535438bc CLINVAR:427621 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56a77e8f-a3a1-4803-b3e6-e6d32726a653 CLINVAR:427621 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9efaf90-7003-4ab3-b6f3-6b501038feaa CLINVAR:427619 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3729aa23-af2f-4366-8b2c-e47db31c839f CLINVAR:427619 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 639be58a-313a-4fe3-a532-452e59b15c48 CLINVAR:449089 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 952b2f0e-c549-4d2a-a2c1-e61af3a9f45e CLINVAR:449089 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75ba1c4c-ff9d-4692-a3af-33dba509d38b CLINVAR:142088 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 305ab37e-a71c-4001-82b0-15a190e2e1c1 CLINVAR:142088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37777797-cbf9-4fd7-b168-f2d3e4bc0327 CLINVAR:301423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76a845d3-3f03-4e5d-8d71-7e4ea980b0a5 CLINVAR:301423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0add0446-ae59-46b0-8a6c-5be746d6cef0 CLINVAR:428268 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e228c65-5c46-4e75-bc56-3784b10529fb CLINVAR:428268 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10757aa-a747-49bd-9c16-d7475fa84dd7 CLINVAR:189414 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23cfe84a-01be-4c58-bcb4-79a5311f7068 CLINVAR:189414 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84f84cb7-380e-462a-92e6-f578a07bec64 CAID:CA16020943 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2dce7f2-2bd3-42b3-b6c1-de94b1b3496d CAID:CA16020943 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ce89af3-7553-43c7-9d69-ca007f02d874 CLINVAR:102583 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51d588c4-1097-408e-b429-2f71455acbd9 CLINVAR:102583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c240fd7-baad-4076-b00d-70c8ac51a67e CLINVAR:102922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e17e88c-f408-4e71-a027-0cb8fb5ccf48 CLINVAR:102922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba08a69f-8a3d-458c-94d2-9edfcf973d17 CLINVAR:102879 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 462013e6-6651-4616-8c10-5f4399cdce0c CLINVAR:102879 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b6d4a96-673e-490d-8567-ca005052307a CLINVAR:556894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89563210-7c98-41cf-9173-e6f0bfd5a6a6 CLINVAR:556894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74a6bd4d-6b25-4b36-8bb9-0ea36bd35b51 CLINVAR:102852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e576fcec-60f9-4d19-927d-57644162dd65 CLINVAR:102852 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e11c9e-9821-45e9-b9fe-10d4ae565720 CLINVAR:102782 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 415f96fb-6aec-486e-89fa-1209c3a80e3f CLINVAR:102782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 821d8f6b-0897-45d6-8556-c8abd61e4644 CLINVAR:625290 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8695e861-7381-457d-8865-9d5f40a451b3 CLINVAR:625290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e03b965-a4a4-4d8a-b673-bdc1bb5c6f5d CLINVAR:625286 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94097f63-41d3-4967-8921-6271fafc76a9 CLINVAR:625286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74da2d87-53d3-468e-93a0-5b841c8ebd9b CLINVAR:625287 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee696739-590b-40f0-a207-00ac4294671b CLINVAR:625287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2c9ee0-e68e-4aea-b0e4-afd6ec484ce5 CLINVAR:553851 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8c3c49f-aa0f-42c5-b160-41bc9b05fdd3 CLINVAR:553851 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a01aa3f-ff34-4da0-a876-57cc53c16b40 CLINVAR:102618 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a210911-24ac-488a-89a6-e5251743e908 CLINVAR:102618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f601580d-505e-4c6b-ab65-5f42326e0c09 CLINVAR:625291 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6bd75fa-3ea2-4716-ac57-d66f382eaa1c CLINVAR:625291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83226524-8922-404a-89bf-2efb9798de25 CLINVAR:120257 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c249d1bf-819a-4720-a23c-c1426c0b0ec8 CLINVAR:120257 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 086a2921-cc0b-437a-a324-1a38921ef200 CLINVAR:120261 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6b774c1-1c02-4397-bce2-7bd4ee58e82c CLINVAR:120261 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9998b89c-9803-4b02-8d62-bebbe4413f85 CLINVAR:102921 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fca2870-8db9-4687-9ecd-a224d3b15e16 CLINVAR:102921 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feb304b8-5166-45f3-8f32-ace8df5e29a9 CLINVAR:579 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39cf102d-06a7-4027-96de-66b43295361b CLINVAR:579 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c695be37-2d4c-406d-abf0-eb453571fc5a CAID:CA16020912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 788ef037-778d-499f-83c8-7560e55723b0 CAID:CA16020912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ede32bd-64c7-4f28-aabd-0a10b3f54d99 CLINVAR:102491 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26f97884-a6df-42c3-96f1-122cb3e81aa5 CLINVAR:102491 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5eb94c9-3367-418e-b367-691886e1b086 CLINVAR:102763 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f21cdf79-592d-4aef-90fc-653a9eea494b CLINVAR:102763 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 359c6b64-c21d-4ef0-baac-dd3cc7d81937 CLINVAR:614 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97162939-7a85-4950-a980-88d095636dd2 CLINVAR:614 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 658e2550-d0ae-43f6-8287-e26af584cfae CLINVAR:625288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e657b171-555c-45f0-8c23-c5104727468a CLINVAR:625288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d0ecb8-930b-4933-a5ca-6738eb0991f0 CLINVAR:635217 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3477ecbd-7c1e-4e0f-be7f-af3921a67712 CLINVAR:635217 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2a041f1-83d4-4d2b-b04a-ae14a6029d03 CAID:CA16020992 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52563da3-98b4-4abc-9402-5e96ed721d02 CAID:CA16020992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c018d9a1-33c1-4f83-9ca2-9e4221a9ee21 CLINVAR:449488 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e986c362-9b68-4550-b6ef-9afae5fc4939 CLINVAR:449488 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ed5627-2f0a-4fa7-a0b7-df612b49ce09 CLINVAR:224749 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01f1848f-e90a-45f4-b33d-6a5ff9eff40c CLINVAR:224749 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6debac2d-3cf2-4d59-8ef9-5c77f24b5a54 CLINVAR:102758 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d34e308-4acc-4ea9-9e8f-27d69f0bcee9 CLINVAR:102758 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d946b0e-d332-4fa1-aabc-217d3e47437a CAID:CA16020953 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07e10b0e-fe5c-4b0b-affb-9c34931442b4 CAID:CA16020953 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43827b5a-e40b-4c74-b956-0803d179868c CAID:CA16020757 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f37546b-5c1b-4315-a4bc-ca7f4c29d613 CAID:CA16020757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68f24165-7ef3-4134-a090-d9fc3ea918ba CLINVAR:102656 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e73f2f5-cf4f-4f03-91e1-81c2dd21fc96 CLINVAR:102656 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1014f42f-1e81-49f0-b90e-b18ce8a17c5c CLINVAR:665198 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 899bc7ea-0fb7-40ff-967d-7df59de85b51 CLINVAR:665198 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 731abec6-fd8e-4d11-8997-38c2c8394228 CLINVAR:102806 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a32f91f-7da9-48bb-adea-a10bcc8a6bbe CLINVAR:102806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14c94141-273c-47bb-8998-33f24719f30e CLINVAR:102793 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd9b67eb-14f5-4f8d-8d27-349cd96e790d CLINVAR:102793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0caf40cb-2a63-4139-894e-2e79f701ee9d CAID:CA16020859 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efbbb71f-7cef-4a8b-926f-49e22422ae56 CAID:CA16020859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd5650ee-62ff-48f8-a432-aeff389888ad CLINVAR:102509 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24755c49-c595-4d8d-bc39-d3d54efa37de CLINVAR:102509 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cdbab56-eab5-4736-8c5f-9485652ac208 CAID:CA16020946 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b32c3004-b0b4-4256-affa-cd9c349a66a3 CAID:CA16020946 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64dddef-b363-42f5-a945-306ca590c1be CLINVAR:43325 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ddadd35-4646-477b-8fc0-ba570f1ed2cf CLINVAR:43325 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b43d8d-8292-4960-887e-61a6c1307eaf CAID:CA16020803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0d04fc3-9237-4e01-937e-df1169b258ac CAID:CA16020803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f880bb-dccc-49ce-8dfc-d63daf92677b CAID:CA16020971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42ab6415-88c4-4cca-9362-11c00ed9cdf9 CAID:CA16020971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a74050ab-7063-46bf-8f7a-ea61762bc0de CLINVAR:102576 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42ed025f-bad8-45cf-898d-e1f3fb9ba108 CLINVAR:102576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ca7b8c-756b-47cd-9969-f0f9105f1db9 CLINVAR:102707 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b99bdb3-3f3c-4585-b5d4-d51615b08320 CLINVAR:102707 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1303f43-a8d8-4fe2-b808-f5c5fbea7f8d CLINVAR:102535 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7b2c8cf-6318-4393-862a-aaffe370b1df CLINVAR:102535 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c34ef69-0551-4574-9a83-865a30b5bc34 CLINVAR:283894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13dd7384-2d5d-4b8f-b39a-8e6defa39c00 CLINVAR:283894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 874fe04c-5afe-4ae7-ac6c-336db2e9424b CLINVAR:556334 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69c68c8a-a5b3-4672-a2e3-8f4faa317f0e CLINVAR:556334 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d515736-06a0-49b2-83d1-4e89cfd0b553 CLINVAR:556881 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc57b75a-9e56-4821-9633-a84c441f8cce CLINVAR:556881 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef7a960-5a55-4edb-a01f-ff8a4bcc4691 CLINVAR:196099 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c444198-bde3-41e2-b54e-e17954909b57 CLINVAR:196099 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 265fc985-e813-413b-9aa9-5043f8c868fb CLINVAR:44633 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8028ebce-652f-4a57-a517-ec213b99ae58 CLINVAR:44633 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a425add-89e6-4b27-8b20-4e605a60f17a CLINVAR:438796 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a03716f3-4da8-4822-b195-fd6a2ccf55ad CLINVAR:438796 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ddbaae-0fa3-42aa-999c-3ba1a022c59c CLINVAR:167260 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d70fb673-23dd-45d2-b0e8-438448126abc CLINVAR:167260 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0514025c-31fc-4e04-b77e-1d99ff6b89a9 CLINVAR:375946 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28b76594-ff83-4f8a-8e10-99795256940f CLINVAR:375946 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45b8cca4-e5de-4d0d-8755-d044fc8afebe CAID:CA6748704 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1df1745-38dc-4130-ba8d-03dc4a83a068 CAID:CA6748704 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5215515b-c584-49a2-bf6a-c1aa7a4dde66 CLINVAR:630 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53264d23-e7a1-41a0-9f0a-0b0928d08eb4 CLINVAR:630 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cb5a4fd-2ad3-41b9-a0e4-86895b21c83a CLINVAR:609 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21a9ead6-91d4-4d7a-8761-7b4d9575a2dd CLINVAR:609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e9ba89e-5d97-48df-989b-4a3de596377d CLINVAR:621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6bcbb5f-351f-42c4-95ba-fa1550d80a4b CLINVAR:621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6cec0ec-509a-4499-bc46-813bca93c092 CLINVAR:224753 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbd89854-83b3-462f-84c8-361ee1a70ca5 CLINVAR:224753 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab64422-ae06-4008-a8c0-4add68a81d55 CLINVAR:166479 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63bbc4af-c20a-43c1-ad07-2c584118c563 CLINVAR:166479 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7391b8ad-8f75-4987-9b2f-3c137f03068b CLINVAR:178685 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 783a0709-a215-425f-b678-304a8b77c8dd CLINVAR:178685 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038be0d4-b461-4b7a-a4e1-0449fe228521 CLINVAR:932902 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37617be8-8446-43d9-b79b-5575caa44005 CLINVAR:932902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38563a79-db00-44c8-85e6-82512a7d28f3 CLINVAR:371235 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d00c37a-7998-4048-b10a-a9c72ca9b861 CLINVAR:371235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 077ff4c3-b6e3-40ff-956e-da1afc901d27 CAID:CA294887189 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 872fe993-b56d-40fd-a274-b7b31f358ea0 CAID:CA294887189 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56647b3-b20b-4a6d-847f-90ca688a50d1 CLINVAR:188841 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6398774-55fc-47bd-8d71-27efb98e92bd CLINVAR:188841 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea706cfb-916d-4c05-a296-fd2d2e306ef6 CLINVAR:370651 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5556193-6a14-4e63-8e75-6dd1379c054e CLINVAR:370651 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ed863d-4c12-42e4-906c-11c19071ad2f CLINVAR:189065 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb76dd9c-c84c-4d67-8663-5c4fdbbbcaf7 CLINVAR:189065 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c41d571-12f4-4eb0-be8a-93d89159ca8f CLINVAR:550355 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26bfcd58-3955-442a-a36b-68deb38e0775 CLINVAR:550355 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17660548-2540-4dbd-8bd4-364b725ce38e CLINVAR:578595 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be71fbfb-c1d7-4baa-8bdd-de2bcc4ad80b CLINVAR:578595 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b309fe-dbb0-46ef-ae68-854b3a83eec3 CLINVAR:560377 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3de39a2-791a-4333-adc7-58f0f053ae20 CLINVAR:560377 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d7e68aa-fe93-408f-858c-a125e4221c8a CLINVAR:654482 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dde546a3-7267-40ec-bc5c-aafa741cf913 CLINVAR:654482 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e317cfb4-fbd1-48d0-a7f2-2451c8f886dc CLINVAR:637958 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a9ececc-191e-48b5-9b79-21dc5658c71f CLINVAR:637958 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14cc1109-a289-4d91-b900-0e07255eba07 CLINVAR:188858 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df5dc6f0-2deb-4be0-868d-effc6d8cef9d CLINVAR:188858 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89848661-be2c-42db-b786-12d1c46af141 CLINVAR:663894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04a7020b-efe7-4934-a1f6-6ae039384b5a CLINVAR:663894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57079bc9-00f0-4d28-8be6-7d63a567a7ae CLINVAR:372968 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b73521cb-d74d-4dba-99c2-a0fa4c40544e CLINVAR:372968 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3946fc56-e02b-4b8c-8a22-00f1d01d56ef CLINVAR:370268 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fa60062-4182-4558-882d-80a5af90db31 CLINVAR:370268 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d20eab-b070-4eb5-80e3-f2be1ba1e14a CLINVAR:649354 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b2db530-55e9-463e-9a8c-5f0c8333aa34 CLINVAR:649354 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d03ec2d-975d-4e02-8d00-a232caa3e072 CLINVAR:552368 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f460fc9-a5b5-47bd-a423-83cfcb4fffdd CLINVAR:552368 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b759f486-518e-4efd-9d42-645fb691ae29 CLINVAR:92479 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2b6e074-99e9-4cce-a139-ead79dd8a835 CLINVAR:92479 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb28f82-b6d3-4c11-8999-3b78c8c043d1 CLINVAR:286229 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8d70b9f-5247-4b05-81d6-404359428299 CLINVAR:286229 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5dcc233-8aa0-4a75-8f2c-8476b761e00b CLINVAR:280063 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c21ce26-3812-49e2-8164-a43b86218d45 CLINVAR:280063 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03d28a4c-3960-446e-a81f-d84b07bf8631 CLINVAR:370904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b7ab827-0fdf-41de-ab67-fe3168eb89aa CLINVAR:370904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01ff8ab2-46d4-40f2-bd39-14ff41c65f32 CLINVAR:429727 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 380db406-46f7-41af-b735-915a7a953dcf CLINVAR:429727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e6b698-bb61-4e34-9a23-dd963dc2e664 CLINVAR:4034 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee77988e-1000-4101-a81e-2de1f8450ee1 CLINVAR:4034 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 699bdb12-09be-42b5-8de0-8624e4d3b5a8 CAID:CA8815306 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18b4c8a2-f039-42f9-85a3-6519ed4beaa3 CAID:CA8815306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d7900a2-174a-4379-a917-e0b6a48c6103 CLINVAR:556265 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 035c6613-a5e3-45a4-bcea-ffd439c3ca79 CLINVAR:556265 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbfd26ad-6d38-4f4d-bbb3-e3e65bdf4438 CAID:CA294896907 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68fae3dc-da45-4d69-a4e2-31d69cb3587b CAID:CA294896907 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01131f34-d6dd-44cd-b4d8-0fb04714de16 CAID:CA913184909 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22bcf9ff-ad5c-4994-bf0a-6f9b2ea98507 CAID:CA913184909 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1cc1253-cf8a-4541-bcbe-9333d745a8f5 CLINVAR:188728 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d18a62f-ddd3-4dfd-8b5a-fd72bbad22d8 CLINVAR:188728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e88bb17b-3364-4558-9431-2de6e71cb837 CLINVAR:426593 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f743e30-f383-4ee9-9dfc-0832632f426c CLINVAR:426593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efb9ff58-5244-4118-9cb3-1b19cf92c48b CLINVAR:188797 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 713dea12-fa2b-44c7-8c1d-fe3bb5853c35 CLINVAR:188797 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 719bfc7b-bb28-4518-97a5-8f5cd519b067 CLINVAR:284093 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51de26a0-48c0-46f3-ab8a-40798dd1c9d7 CLINVAR:284093 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ab94261-b738-48a0-ae89-d4a97aa4a197 CLINVAR:379593 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29679b18-6b43-4d5e-8859-9c47dfcdb42d CLINVAR:379593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf9ace29-ef29-44a9-ae21-4e2247feb3eb CLINVAR:279811 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 772386d2-6b70-47f6-971f-b05bb766db2a CLINVAR:279811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46554130-7b2f-42f3-97af-209acd65d7b3 CLINVAR:188902 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a35da9e4-bc97-403f-89f6-8f7071e8116d CLINVAR:188902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db520da0-251a-486a-a226-9f66b9a64e19 CLINVAR:188924 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb949e07-ca2f-4cc1-8f3c-539f88614506 CLINVAR:188924 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8f07e93-4213-49a0-a34f-55e4b13d4c0f CAID:CA658795262 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 877d921d-85fa-4260-8c4d-d51f8f8be70a CAID:CA658795262 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a3b0c2f-2689-4b1d-a21a-1fb3a2508aa9 CAID:CA913187393 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03d8e8b5-0c68-4243-9163-9bc89c27360b CAID:CA913187393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1021a552-468f-4281-b833-d462c45d5b24 CLINVAR:188903 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b0b9e13-7bba-4c4b-8f85-0c3abb2b80a0 CLINVAR:188903 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b182095-cadc-4f5d-aaec-050af95d5516 CLINVAR:499380 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c898e2b1-79e3-4a43-bd7b-1bc40e1e2d41 CLINVAR:499380 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9442e80d-15bf-46ff-a848-f7d534422c3f CLINVAR:189184 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f20524fe-7c70-4e05-a241-df707c6ea9ca CLINVAR:189184 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16773e6e-1a3d-4252-bb51-43efc14fdab5 CLINVAR:189188 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb490208-5014-49bb-a9b8-1229eca62483 CLINVAR:189188 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c0d052e-d545-4d14-a76b-f287a01a30f7 CLINVAR:102788 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e45c103-6a74-4f73-9e1c-bfdb83b25b86 CLINVAR:102788 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec469c11-e009-459b-a7fc-bca545e486f0 CAID:CA16020973 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f21156d7-7c6b-4b4f-a6f1-918f50e40fb6 CAID:CA16020973 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b82e05-403d-4c95-ab86-e53b65a4564e CLINVAR:102569 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cc558ce-d895-46d8-ad21-1d746f358533 CLINVAR:102569 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22e646df-5db9-49b5-a324-3a6234da7b55 CLINVAR:102759 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4dbaac5b-5859-4a90-a899-c269e1e0f9df CLINVAR:102759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c80ed57-d6e8-457d-9898-a32930a63842 CLINVAR:102476 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 596bac62-299d-47a7-bb39-53b599ad749b CLINVAR:102476 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9997880a-ec09-46ab-b394-e1792fd226cb CLINVAR:561221 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 624418fe-e157-4fbc-8d92-f358c6a2ae09 CLINVAR:561221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4119591f-c245-47ba-ac39-9c4566f3724b CLINVAR:561228 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82afd7a3-d1f8-4f1d-9c5d-22174f3cf5c7 CLINVAR:561228 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05ff3a47-9bdc-4604-9d65-4969dfac200c CLINVAR:561230 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f46b3c02-4906-4231-9fc7-8e8556a09fc6 CLINVAR:561230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1afdcc0a-37a6-476c-86e0-eb5f13c2bd50 CLINVAR:561242 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 501699ec-aa80-47b6-b8e6-52311ce0828e CLINVAR:561242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4e6660-2f15-43da-83b6-f4474b216887 CLINVAR:642956 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3b6b744-a25c-4038-a60e-01709dec4c6b CLINVAR:642956 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111679f5-27ce-4d34-8736-6b03edf82110 CLINVAR:561255 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0287907e-572b-4f01-a815-bed42abede21 CLINVAR:561255 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b9d5a79-c0ce-40d8-a281-9c6fcd9d21e2 CLINVAR:581331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5535ccf-8fbd-4a25-8a83-956143076ac4 CLINVAR:581331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fe73993-150c-4f7d-9f1d-954d115ad7ff CLINVAR:572808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6042816-549c-4fd5-aa39-de1c1300ceef CLINVAR:572808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f65a5777-6ad2-44f9-adfe-b0e82f396cc3 CLINVAR:370276 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 362612db-ea12-420a-bb68-d11bea546caf CLINVAR:370276 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b44023-1be1-49aa-90ea-b29737354f07 CLINVAR:188996 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13ad7964-69d6-4a5a-8b90-98491b6822f4 CLINVAR:188996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef8f032-2794-40e4-8276-7b00398be16a CLINVAR:553894 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c851401f-170a-475d-b316-7be3f9556ed9 CLINVAR:553894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a4eaa6f-e922-440c-b66e-c704edbb685c CLINVAR:595469 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3033cd7d-11a8-485f-ac79-4e2758e62733 CLINVAR:595469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79089591-6f21-4f3c-b4b3-6f35e6242059 CLINVAR:593486 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a428fd73-ef48-4b91-914f-b21663e548c2 CLINVAR:593486 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68333aae-73ff-48c6-b55d-8ed3e59d7783 CLINVAR:183727 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41a8959e-0604-41b2-b68f-63a43e389a69 CLINVAR:183727 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d40c3062-1de7-4c72-b59a-807fa5d4ebfe CLINVAR:491537 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56759bba-b270-4ce7-bdc3-22f191c2afc5 CLINVAR:491537 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b45c7cae-2385-4f65-8b63-32bfa41fc4c5 CLINVAR:421431 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b570026a-5842-4c3b-9090-5b5e540d971b CLINVAR:421431 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2585fadf-bad6-455d-b0fe-9fce3bd1b686 CLINVAR:406652 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76f0c8a3-9e03-4296-9965-99e8964dc6f0 CLINVAR:406652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6274cedc-5f85-4a2f-8daf-8392540cdf56 CLINVAR:449922 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fe5f6bd-b261-494f-ab68-7ececefdaa7a CLINVAR:449922 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74f360da-e280-4d35-8af8-76ec678fa629 CLINVAR:532473 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0372d887-9272-4701-a846-dcc088d9e678 CLINVAR:532473 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b7ff8b7-2082-481c-ab47-26cc4d01d6e1 CLINVAR:428623 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58463376-ccc0-4f52-8000-52dfc052c4a4 CLINVAR:428623 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d0553a-b56d-42c6-856a-adc1ccc6e5d3 CLINVAR:186267 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af1fd451-9f40-412e-8af5-64d1db17f78f CLINVAR:186267 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc39d804-aba8-4f7b-bbad-57ed289355c1 CLINVAR:545807 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0747f3f-e40d-446b-abe8-093e8da92c4b CLINVAR:545807 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fe1fbe0-2dbb-4901-9009-3d93ec918f80 CLINVAR:265543 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf11e28f-5766-4079-ad45-1a85339dfc5f CLINVAR:265543 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3e1471b-c430-42ba-bb43-14f98e5e08a7 CLINVAR:483271 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1552dadb-4956-4da7-b9d7-4e39ee7c4668 CLINVAR:483271 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b3c39b-fbb8-469f-91f3-0872bee5809e CLINVAR:485481 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1fe7625-653d-4ba5-b0ea-433b9c5855e4 CLINVAR:485481 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4743fd46-9804-4cae-bce6-1b9b7d3e095c CLINVAR:428621 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4b11055-3924-4146-a92a-469e94a0309b CLINVAR:428621 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094e76ff-df1f-483b-a6e7-727f0ca10ca7 CLINVAR:479518 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8db2ee5-6c58-4e27-ad8a-0b55f01ac364 CLINVAR:479518 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4aa1f8a-97e0-4cd7-acce-0cd5c1ddfe3b CLINVAR:265511 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1e629ae-ba94-4c4b-9fbf-4b4b45dbdbfb CLINVAR:265511 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad84f79-c32c-43fd-a6da-83e80b9f703b CLINVAR:216589 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 023314e3-b069-4153-bdf2-5c3c111688bd CLINVAR:216589 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c455bf4-4a50-4a2d-8071-c5f3ff58a6cb CLINVAR:142826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f45c5058-ec74-4e76-9524-e05101921297 CLINVAR:142826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17734538-73c4-459a-bb19-c4d5e318c90e CLINVAR:463735 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a24203e-302e-43c2-987f-30044fa5398d CLINVAR:463735 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a99c112-40db-4ad3-8b84-8667554bd303 CLINVAR:12237 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d019cb9b-ca0e-411b-a47f-fd8f9fdf563f CLINVAR:12237 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13f910c6-e5ac-4381-a5eb-240accb8b803 CLINVAR:136065 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbf67524-f742-48d8-ac96-e333ada71ce6 CLINVAR:136065 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f0ff08-4c23-481a-a101-b8beae262992 CLINVAR:479524 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a7fe027-9d6c-41f6-bfac-fe2fcbcb5193 CLINVAR:479524 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce37bcf-386d-42f4-8405-f59eee45e0e4 CLINVAR:423041 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49f20137-6c80-45e8-8cd8-aabe45fb89b7 CLINVAR:423041 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bf0fc3f-504d-42fd-be97-ad41d8c065c7 CLINVAR:406654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2414961c-fb0f-4da2-b08b-e36dfd93dda8 CLINVAR:406654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 084faf98-a212-42db-aeba-3c8fb30e42af CLINVAR:481011 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28bdd463-6589-401b-b232-592eff1c9fc5 CLINVAR:481011 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 271641cb-f98f-4053-a3e7-7fbae00bfe0e CLINVAR:428631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54f170bd-c38e-4c9b-b9b8-81617f53e5c6 CLINVAR:428631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 205ed07d-4588-4ce0-b7ae-2f0de9c2d07f CLINVAR:406633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 235178f3-cf47-4021-9326-30bff917b8fb CLINVAR:406633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50a701f8-ff6c-4100-b2ca-52bcc99ba292 CLINVAR:418111 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9e86313-d22d-401c-a6f7-46c66afead30 CLINVAR:418111 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f51647b-65b4-46ae-8030-28040ac7a8ee CLINVAR:428632 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5caa9346-a4a8-4b8c-bbb2-7c4be255c2ce CLINVAR:428632 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8b658a-9d62-4dbd-9539-9f54bc98cbe5 CAID:CA16020723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 152c8ce5-2943-4cb8-b981-530d548d6c95 CAID:CA16020723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56542641-2410-4ee1-837a-bc7b7a88f066 CLINVAR:102514 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d98d6342-9c7d-40b2-a701-97d598c95dd7 CLINVAR:102514 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c6d613b-e782-46b8-8a19-4471702965a6 CLINVAR:21389 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65589e9d-3369-4a76-8425-53890d5f0c50 CLINVAR:21389 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29892543-bb0a-4e9c-a191-cb39f9197ce3 CAID:CA16020867 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48639b44-6dbf-4b8e-a422-f9cb15ae1856 CAID:CA16020867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17f78783-aa65-4c25-95ef-2b5c71d9c9c8 CAID:CA16020880 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6822b555-ebae-4b62-9087-842336ec121a CAID:CA16020880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec76a401-fbe1-4e6e-8998-585d0e5a30db CAID:CA16020919 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6feccbd2-32aa-4759-b488-f3c931535315 CAID:CA16020919 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4d358a7-e060-41c9-9d3e-7e09a31557eb CAID:CA16020945 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1dc1fcf8-3971-483b-bddb-fa6187bf3c50 CAID:CA16020945 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c5d3698-f037-4a2e-a602-dfb116311bb7 CLINVAR:553594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc22c84b-04cc-4aa3-bb46-4d2572966329 CLINVAR:553594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 300f7871-de59-4fcb-a78a-ff8d399c6201 CLINVAR:164664 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5577e2c0-2adf-4392-b999-2889c4dd94e5 CLINVAR:164664 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c9cae59-7e09-4622-af01-c44d93007c23 CLINVAR:561500 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 575e0825-eb62-44fa-a6ac-86ed76c55dbc CLINVAR:561500 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b2d3ee1-8ff6-4a5c-bd39-bfb06b09c40c CLINVAR:40389 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fb86ffc-428e-4061-8560-12707461a1cb CLINVAR:40389 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc650b99-4339-4112-b7be-4e59c37584d0 CLINVAR:44603 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d813197-7d27-410b-9dac-5ec7a31e941b CLINVAR:44603 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b56843e-ad0d-4772-8b34-5c2823232254 CLINVAR:504514 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27b5ef16-9acc-494e-b12b-2fb22d9aff60 CLINVAR:504514 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 973ae005-84ae-4f46-8ce2-3970921d08d4 CAID:CA16020906 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f77cbda-176e-4ab3-b0f5-4a6cbf5bd702 CAID:CA16020906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 638d88b7-ede9-4ab5-bcf6-28404f3434ca CAID:CA16020975 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad2d9625-316b-4cd5-adfa-1f2061c3371c CAID:CA16020975 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2000f7ef-e157-46a0-9ee8-f5d8827ffa4c CLINVAR:626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17613310-3bd6-4a12-87db-68299c434127 CLINVAR:626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a97fb480-5f8f-4708-9c08-5074d8aa257f CLINVAR:634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adb7a7c4-e988-48e7-b94c-67bd4bc8bd83 CLINVAR:634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 695fe70e-1e3e-4b5b-96b7-ca57fab1339d CLINVAR:625289 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b7fa4aa-af10-4425-8c1e-369d1d6842d4 CLINVAR:625289 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed4c599f-e11e-4895-a217-829b700d8e29 CLINVAR:626282 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 255ed393-3daf-46bf-8fd0-ad8bbb119c69 CLINVAR:626282 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5790fbe4-733e-414f-b879-da53019bf3e6 CLINVAR:523937 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe09b161-ec48-43e9-84d1-49d2501dbb1d CLINVAR:523937 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b057f22a-4d13-4ac5-8458-23f12fb94c98 CLINVAR:429215 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f64f3ddf-044c-4957-b6bd-34908d335b2f CLINVAR:429215 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c80a758d-3328-46fe-9a04-f78c92f1198e CLINVAR:188878 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35b472ea-e014-48b3-8445-2f68608b161f CLINVAR:188878 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea39a134-5304-4707-8550-adfade7bdb71 CLINVAR:236537 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fafd211f-a5f4-48ab-96de-03aaa757f563 CLINVAR:236537 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5697352-1c64-44d7-85c9-f520b349be87 CLINVAR:166488 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bae0a599-32af-42ac-9683-f773db24620e CLINVAR:166488 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5add0d11-7948-47a8-b69e-63cb1ded6683 CLINVAR:120284 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bda4c7e6-ae56-49bb-847a-5ec73034196e CLINVAR:120284 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9991c0d1-0f53-444a-b6c5-cdb1c78f26f0 CLINVAR:43298 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aebe6d31-fd32-48b8-b54c-d05562bcb1c7 CLINVAR:43298 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc31c7bd-8811-4cf4-9409-c4935480d736 CLINVAR:44731 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c48204d-a429-4182-826c-3e65b45d024d CLINVAR:44731 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bb6bfae-988a-437a-9b28-c92762501901 CLINVAR:44829 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5318c94-4c2c-40ac-ab05-5c77e9577d52 CLINVAR:44829 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 643dc6b2-8eea-48e8-8aaa-82373208993c CLINVAR:40367 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cabfbf1-4d02-44ea-b912-ae29135ba280 CLINVAR:40367 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baef2282-f2e1-4fa5-abb1-594a378b1d5f CLINVAR:280446 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e685f1aa-3b55-4e32-a9e8-724384fd0f40 CLINVAR:280446 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b32a2e87-c615-410f-a99e-04d482cf9c42 CLINVAR:44832 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8acae5c-ea7a-4de2-a844-eff9b0ee3b80 CLINVAR:44832 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d047d57-3faf-4eca-8aee-04df2798b3c6 CLINVAR:375981 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 355b5bfd-ee60-4e26-8a6c-e07d648b25ba CLINVAR:375981 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2101ba2-f060-4e71-8ed7-0556e19a58fe CLINVAR:120263 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a81ee5e-14d3-4573-9d44-5496244d029b CLINVAR:120263 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f6fbab-4e53-4076-a5d7-ffcd82f77b9f CLINVAR:120262 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3269efe6-43b4-4809-a973-908590a4225a CLINVAR:120262 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c30df5a-b63d-45ac-ac27-56652f37d297 CLINVAR:225375 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 795cfad4-cb6d-4700-a094-94dff8c6d46d CLINVAR:225375 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db777b25-54ae-447e-8f1b-0e1dee0cf110 CAID:CA16020976 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a44ce7e-b4ce-4f4e-86df-a1f3a24360fd CAID:CA16020976 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3e0e5a6-30ef-4b1f-a80b-8269b85d9f68 CLINVAR:102572 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ff13b7a-2c7f-4ab5-8b03-b9fb2ac38cdc CLINVAR:102572 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64bbcb07-00cb-466e-bf07-b9ca3fec23da CAID:CA16020780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86aa1b31-52c9-4053-8a89-c3dc15071922 CAID:CA16020780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3981a81c-90e8-4a9e-bc6f-ed382bed98de CAID:CA16020747 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b1455c0-0d50-4a57-8161-d42c18c176c0 CAID:CA16020747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a11e0ff-f43f-4e04-972d-bb32c2b3c612 CLINVAR:92738 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1917e261-ed9e-46a5-b4a2-cfa2dfca651d CLINVAR:92738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 208d8f64-9e40-4c97-9e93-6787f3957485 CLINVAR:102743 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6e248d1-1079-4b9b-8b42-7cc51a34d872 CLINVAR:102743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80c4d7e3-3879-4ab5-906e-21062629e92b CLINVAR:102747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 481051e2-1f69-48df-89ab-c2cd0aa40c34 CLINVAR:102747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 950156b4-4d77-4a68-b20e-e6a846b04a9c CLINVAR:102499 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f08abbad-0723-4e2f-a690-85b5db98748a CLINVAR:102499 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 838a2def-131e-41c5-9d99-b3f6dcb5b60d CAID:CA16020894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59711d0a-220a-40e2-99a1-0bb236439c38 CAID:CA16020894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b32636d8-7a6b-4702-aeab-b11346fbf95e CAID:CA16020895 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f01297dd-03ef-4935-b122-b50518d8b910 CAID:CA16020895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b41f933a-6029-4a23-9228-d8d5b21537dc CAID:CA16020967 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12dc0783-58d6-4372-b912-bb7c00461e11 CAID:CA16020967 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7cf71b8-2299-4e50-b637-41f9fb7a1af8 CAID:CA16020808 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87b57aec-e8bb-4cf7-a694-657c222f6b55 CAID:CA16020808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34b6b704-c567-45bd-be77-4dfdc5edb9af CLINVAR:120276 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6031b7a-5e0f-4e5f-be85-a092c964034a CLINVAR:120276 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e89e2ed8-eb74-4e37-ae5a-c7c26899df1e CLINVAR:102655 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 491d2392-71b8-4243-b097-bc75a213bdeb CLINVAR:102655 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2221b8c3-5502-44b8-800c-bc807e8f886f CLINVAR:102506 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06245982-69f0-4c43-9479-530673dcadaa CLINVAR:102506 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f339b9a-d118-42f1-8b97-74eb0b1b87c2 CAID:CA16020925 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99378bab-079d-4e2e-800e-83a6cf35ffe8 CAID:CA16020925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ead806b-17b7-48f1-bd7f-6eecf71e8bd4 CAID:CA16020903 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e06dc692-218a-4361-997a-6283db84b8dd CAID:CA16020903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce00b324-1e84-4461-ac11-cac67054a789 CAID:CA16020911 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17a0fae7-a32d-4ff5-bc97-a37716d6d743 CAID:CA16020911 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40c5d197-02ac-4bda-b7e9-9601d6ec917e CLINVAR:102731 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df0d61fb-045f-4e9e-b8f9-6c8b74d2d0ef CLINVAR:102731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50e5c4c8-a497-4ece-a4ee-a751b1260eb1 CLINVAR:102901 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73307998-182b-4b7c-be64-3ac39f178867 CLINVAR:102901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09d328eb-0cd9-4eef-a7c5-f10523a6a08a CLINVAR:391813 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 601c6684-197b-4bf0-b3e9-c0c4071892b2 CLINVAR:391813 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8108daf-6b30-4fc6-9c70-91a080ee4b43 CLINVAR:40674 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f44fb3ae-7796-4474-b6f7-a878f4770a04 CLINVAR:40674 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8623fbd-5bd8-4ea1-96d3-e2ad813fa018 CLINVAR:180851 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f77f32d-9491-47ea-9d2c-4228776a96f7 CLINVAR:180851 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53333c0c-5275-47ce-90da-012948b88cca CLINVAR:561622 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51ea3754-ca3a-4c47-8196-67c23ad381af CLINVAR:561622 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda63dc6-9a57-44af-9847-1178b1e2efd1 CLINVAR:179760 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f3ecaea-33cf-407b-a1e4-2e8bfec18dd5 CLINVAR:179760 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7294e631-737c-4db4-9a8f-882398fb0ee6 CLINVAR:45368 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65aaaab3-c910-4909-9f71-c6f7bed3c051 CLINVAR:45368 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8931ae-fd71-40b6-8af9-d4fef47a3fd6 CLINVAR:48409 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec29bd9b-4937-411b-a582-da14aa4f0dad CLINVAR:48409 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5f1e84-bff9-4b5a-8d99-e41c0ea72e29 CLINVAR:449490 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f010e7f3-9d44-4d5c-a089-06e6c391a161 CLINVAR:449490 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39026dcb-435a-4400-bc1c-023a462cbc7e CLINVAR:178937 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c36b7d92-8436-43c0-b4e2-3cc6868f7ca3 CLINVAR:178937 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ce9a0f-ccab-488f-a168-620eb5bb294e CLINVAR:102504 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72cd0ab9-8d61-4f33-95d6-e6d77a058bcd CLINVAR:102504 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a384d2-6134-4401-a2b1-ca4d12a74a9f CAID:CA16020988 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aefaa6c1-f508-4f8f-a2ed-f5cefe852f84 CAID:CA16020988 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e56a6b48-bfc1-4b90-b666-db9e054464f1 CLINVAR:427615 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28b41fe1-5ed4-4ef4-882e-618eadf4984e CLINVAR:427615 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 641a961e-1068-4508-ac8c-3c20e36a4c5d CLINVAR:498538 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0c05ab4-b733-474e-901c-ed858d223c04 CLINVAR:498538 biolink:is_sequence_variant_of HGNC:11720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63b8b836-a178-4f70-8705-d3956e20681f CLINVAR:561238 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef276f50-7e48-4372-981e-8421c9115689 CLINVAR:561238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 701ca966-7f00-4264-a4a0-d0a08fc0d44b CLINVAR:561254 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b508af5e-2b14-46b6-906d-a25ce240f1aa CLINVAR:561254 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 433296ba-752e-4661-b17d-213c2e3fedfb CLINVAR:633606 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0963893b-fd49-4bf9-9679-e23f987d6ed4 CLINVAR:633606 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1970834-615e-4437-b264-86b7ea3b2e53 CLINVAR:12365 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e479c65c-0b7d-416f-82f1-7609b5dbb615 CLINVAR:12365 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e082ec94-b5f6-4570-83bd-46b9245751d7 CLINVAR:638853 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 601ba07a-5a31-49ca-a125-46b6b3930dc2 CLINVAR:638853 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c28eb8a-2bf5-4cad-86b3-d693f5398790 CLINVAR:567576 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 686b6044-fccf-4baa-85db-8b6588d3945d CLINVAR:567576 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a0515a-4bd7-4e04-8839-ed146aaa654b CLINVAR:491536 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a5cff3c-afae-445a-984a-e15b3fb552c4 CLINVAR:491536 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f3ffc8-f43e-4ce6-84e0-feadfdfeebd2 CLINVAR:406631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b7916fb-1f3f-4700-b415-9d96153123df CLINVAR:406631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4bfd620-0b51-4295-8c85-661266ed9e29 CLINVAR:439045 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e5f7840-591b-4f90-8d43-d43b095465b6 CLINVAR:439045 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9822c42c-8aaf-42c1-bca4-41a9d7def483 CLINVAR:496817 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90fe3ff8-6423-4759-b246-325e627255aa CLINVAR:496817 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e90973d-3a5d-4c83-8484-ee2dfab2a4c0 CLINVAR:622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13e72967-1dc3-4bb2-8a43-936cc14bc717 CLINVAR:622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d40b6e7a-163a-4f77-afea-6f9666331b06 CLINVAR:102834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e955c9a3-a9fb-48df-a8bd-42652e8f77b6 CLINVAR:102834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2891530-6171-4c2f-8ae9-35b065a502af CLINVAR:370074 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b366979-1c95-46c5-bb0d-66b0b52332f3 CLINVAR:370074 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b994d8f5-f224-4ae6-911c-baa2a5d3e97b CLINVAR:555797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b572df4f-fbbc-4587-b8c5-31fd57c8143a CLINVAR:555797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d12b24f1-b937-4574-a267-5ee7feb75c02 CAID:CA16020996 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f262c0a-b46e-428d-8d50-3e20678383ef CAID:CA16020996 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25316dd3-b32d-4054-ad67-39c085a12b01 CAID:CA16020997 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef849aea-0404-4647-81a5-8596a57f4eed CAID:CA16020997 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0fc69be-1b8a-4aae-9f68-d8ec74bd3fe6 CAID:CA16020991 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e6964bf-e77d-441d-9726-d594178ec382 CAID:CA16020991 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb20b6bb-ea46-4354-849b-c04bce9ea121 CLINVAR:578 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb475189-0381-482f-8960-68e02d82cb40 CLINVAR:578 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 967a5b8a-97cd-47e7-a1a1-d2bd7185f4c0 CLINVAR:102609 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13e0dc04-babe-44f5-b4b7-47457fce14de CLINVAR:102609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e71386b-31ac-45db-bcde-5e60f2d5f0a2 CLINVAR:102846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53598f87-4179-413f-9811-37fdc343a5a7 CLINVAR:102846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c30ad515-d5aa-4f30-955a-ea0d10d781bd CLINVAR:805828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93e705b0-05c8-4e61-a196-c298a1955361 CLINVAR:805828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584335b5-afb6-4ba5-ab32-0e9945a9a324 CLINVAR:188771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b90c5a8-d5b5-4ab1-9e0f-2556cacda31f CLINVAR:188771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7eb6255-e2c3-474e-8c51-1864e60433bc CAID:CA16020909 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d979b133-2ae3-4f2c-ab9a-940a690c24c0 CAID:CA16020909 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f98136-34ff-4844-9096-739c8b5bd20c CLINVAR:842394 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f98fc87-b9a4-48c1-a703-135fb773c1a9 CLINVAR:842394 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26f043a-71aa-46d2-83a5-21f53ee0bbd2 CLINVAR:635216 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f64f054-33bc-41c5-9dba-73a248f2c1f4 CLINVAR:635216 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8640f4f-6830-40e0-b3fe-a9dbc56c95d1 CLINVAR:102642 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff5df314-d821-435d-8e30-51063d655f2d CLINVAR:102642 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cdab548-3bf2-4040-b514-d4935fadbb2f CLINVAR:120298 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f46a3ee-c25d-4ee6-8414-88d8facee643 CLINVAR:120298 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81af8e6e-b060-46cd-826b-7a062fa7be9d CAID:CA16020910 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ad75731-d430-47a4-bb5c-c86e8e847d35 CAID:CA16020910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cc02c4d-4ec3-4038-be1b-a6c30c1d2d0e CLINVAR:805827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2873eba-7d33-42fe-89e6-d2bc7e042cab CLINVAR:805827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e180cb5-b876-485b-a710-1a1bffb2dc1d CLINVAR:102671 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35435c24-bec1-438a-901e-1a4612c87882 CLINVAR:102671 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 910c7cc5-0953-4ca8-81a9-8be86b8d9b02 CLINVAR:120272 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20bbabe2-af55-42ae-bc38-9662d7b7e7f7 CLINVAR:120272 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f406d51a-65f8-4ba1-a90d-801a9895568e CLINVAR:372656 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e128bed2-6921-42e3-a521-30714a99e37d CLINVAR:372656 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa6f34f7-cde2-43bc-8e4e-c611c81bf757 CLINVAR:40681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3be24b3-4e4d-40cf-b8bb-153c55f36539 CLINVAR:40681 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 269693e4-e6e4-458a-ab33-7efc359664e9 CLINVAR:12872 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 047fc293-49c6-4208-b842-4dc4e4501c32 CLINVAR:12872 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2570297a-1560-4b9c-8cb4-04253fbbab5d CLINVAR:40684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f47cfd07-b429-4a04-bf2d-8e1ed14bd3bd CLINVAR:40684 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92a15c0-4f91-40d5-bb6a-a3c9bbe1740d CLINVAR:40682 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 200d689f-4afd-492d-878c-08243fcffdd0 CLINVAR:40682 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 418eea11-29ef-41fd-893b-b6b9ef16f88f CLINVAR:40683 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 688f2d44-de18-4c58-aff1-11ce723e2818 CLINVAR:40683 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eabc50a4-adcf-4fec-81c4-6a00ab6fffe2 CLINVAR:189041 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c0bb5c5-47b8-4ad0-a415-1116eab8635a CLINVAR:189041 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffe29a85-75ec-4a93-90ff-20d5bb36418a CLINVAR:167113 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f7446a3-bc9d-411f-a73b-0195efc46fad CLINVAR:167113 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e24f6198-0c42-442b-9041-3790a0250ec0 CLINVAR:127823 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26f17433-f9fd-4855-9b43-dc88512716d6 CLINVAR:127823 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc772ee0-32d9-4dbd-8254-e7361c9b4f3d CLINVAR:230764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6a2624b-79c4-43fe-bdc3-aac6d2ae4f6e CLINVAR:230764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6788d75-8fdf-47e1-bfb3-1c3bc288b163 CLINVAR:245851 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0f1a442-34f0-4bc1-beef-6ac938c6a3c6 CLINVAR:245851 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 473474d7-22a9-4400-8515-c120389fedbe CLINVAR:246429 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ab6e300-2141-4973-a330-c232daec3f5a CLINVAR:246429 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5de433d-bdf7-49d7-9c2e-99e3356b29e9 CLINVAR:376624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 201bb800-1780-4acd-8e00-a802aa714e3d CLINVAR:376624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd766b69-1870-47f4-bea8-f8652b2c8225 CAID:CA16020955 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7535e20-89ec-4d9d-af61-3f6b39716543 CAID:CA16020955 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7459fe64-30b3-4781-9f36-15e91bb859b1 CLINVAR:4842 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70edb45d-1d41-4fbb-8ef8-ac3e914c520a CLINVAR:4842 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ddaab90-7333-45ac-ab58-a506f77fa9ad CLINVAR:102918 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a179077-b7e4-43ba-8ceb-5898a66a5f4b CLINVAR:102918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c4fab4e-2efb-4283-99ef-62a1da1cdb03 CLINVAR:102566 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a83c6ef-c5fa-4706-a7a4-9876781b9e3c CLINVAR:102566 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0589ed32-97da-4d99-bd3f-55c084b29724 CLINVAR:987756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f98f929-d06e-463b-b02e-2a911ba7c8c3 CLINVAR:987756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e0988ae-ed6d-4281-8d71-bbaec9908a01 CLINVAR:987755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 661e0c7a-a5d1-477f-925b-83e4ed24c67a CLINVAR:987755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a926024b-b942-4f46-b1a9-9be422808795 CLINVAR:102544 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ff2d80a-3ca0-4f56-aea1-5c16a1d4b553 CLINVAR:102544 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e657afa-2901-4754-a206-67fcabed65af CLINVAR:102560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8fb1a1cd-cbd0-46ec-bba4-f86373416cfa CLINVAR:102560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c05a33c6-4958-491a-a021-c89a896921e4 CLINVAR:102550 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2719dbb8-287b-4e16-b1e2-7c8b99e53b10 CLINVAR:102550 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10c74510-8528-474a-b846-7440f94d5a29 CLINVAR:987910 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee93e8f5-b33c-41e4-b890-a08e55c05aeb CLINVAR:987910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8422479-8cac-4129-b2d2-c70843902a8e CLINVAR:102714 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89579ad4-48f7-47d8-aa63-4834a8f77863 CLINVAR:102714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c3ae01c-b228-48c4-a03e-89928a4f8849 CAID:CA16020875 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efa26437-a4be-4511-9082-4d70db0e206d CAID:CA16020875 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25369a3c-232e-46cc-af65-a31c1e3692a9 CLINVAR:574672 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 916ab914-e91d-4957-9495-b21b9e44f816 CLINVAR:574672 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcaf5010-1452-4a86-be8b-50daa6a5430e CLINVAR:428622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91308aba-5f57-4018-bb57-cc497baf5970 CLINVAR:428622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d34ce7-3e8c-4ae7-8a3c-7ea8c1483fcf CLINVAR:265635 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0068a419-592a-41b3-bcc0-391d76b4e549 CLINVAR:265635 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec09eb9c-340c-491b-aca0-6211d862684e CLINVAR:439040 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85478070-bfc5-4f5d-95d1-881e79040140 CLINVAR:439040 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f2b25d3-15cd-42e7-9148-801bd57e5b13 CLINVAR:428633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9d65ddc-8941-4acb-a718-baf412ee7089 CLINVAR:428633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beae4e9e-bb71-42d1-8f12-4886b456c80d CLINVAR:491497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2922b48d-526c-42ed-9c7a-429e365b7a0c CLINVAR:491497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02133190-8d6e-4756-b7ee-0331b6d7c424 CLINVAR:422539 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6baf025c-d2f5-46ef-a0c6-8873f39cc270 CLINVAR:422539 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ca0bdc-8b3c-414e-987b-cf8f30be19c4 CLINVAR:449339 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6005cb10-144a-4227-8a5a-0d8b2a96ec4b CLINVAR:449339 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 405ebf54-6b45-4bc8-8e0d-4d644455a72c CLINVAR:545756 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15d6c861-010e-4d1d-82d2-363776c78c43 CLINVAR:545756 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e69ba4c8-fa44-412f-9d74-c1d4318de840 CLINVAR:234610 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cbb7b19-9c6b-4dc4-b728-8f89cea8c2f2 CLINVAR:234610 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b5de6aa-bf22-4ab3-acd5-485d6a90adb6 CLINVAR:532477 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc873982-1d7f-4c1a-90d5-a9719b51afc7 CLINVAR:532477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70225c35-33eb-4c55-b92b-1ec7d90c0306 CLINVAR:182376 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c80d31c-0221-448d-92de-82b51d797a91 CLINVAR:182376 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9968c496-1dbe-495c-b925-7894d4688b77 CLINVAR:185252 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 930214dd-8687-46af-88eb-22a064157a1c CLINVAR:185252 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c7a2f1a-6ae9-4902-9006-88111e0ee5ea CLINVAR:140781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3bf4977-98c4-4a00-9af1-6ab90647ed44 CLINVAR:140781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a40a926-8d1e-4420-9b5a-b3829dabfc65 CLINVAR:420613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d476c1ae-ccf0-440b-b1b1-5287845fd2d5 CLINVAR:420613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1837e899-350e-4749-9c40-f05e45f66eee CLINVAR:532441 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e0c682c-4383-4ea2-8d89-8eecc3213289 CLINVAR:532441 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9eba9b1-4521-4278-a3d0-f0178623711c CLINVAR:406676 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2b8c3e8-1393-4a57-9de0-6a3e86ed7485 CLINVAR:406676 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2493595-5660-4527-a70e-7dcc6b0c895a CLINVAR:428624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e33bbb1-c83b-47fc-8221-b49670ebc408 CLINVAR:428624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea8c150-cc9c-45f4-8b64-bd1b73fbdbcc CLINVAR:496818 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 870498fe-ac4c-46e9-a4e4-6a0aa9a21b73 CLINVAR:496818 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8280b4-8135-4584-8846-d2e241390a00 CLINVAR:421050 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17cedbf0-da5d-42ad-b334-7b4e1596fc88 CLINVAR:421050 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d8b198-9aac-4a57-b7b2-54ddc6222d72 CLINVAR:485476 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69c7b2b2-d2ac-4689-99b2-6d9485229e73 CLINVAR:485476 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f75b3b99-cc68-4b83-9148-a4382be8383e CLINVAR:234812 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 850dd7ce-fe64-45cc-af39-74a61e2877ac CLINVAR:234812 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfcbc6a0-a2c3-4d2d-8008-2cde9824ee4d CLINVAR:230175 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d61932ad-05a8-4bbd-9290-811bc657b316 CLINVAR:230175 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6b6606-5f7f-44e6-ac49-17cee5cd31b4 CLINVAR:488647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e97a1c9e-5394-4172-bd70-814198cf25a2 CLINVAR:488647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ca729f-e0dc-4966-99f2-15f1518f6cab CLINVAR:406615 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08f4a245-76b6-479a-bc83-87ebfd325a98 CLINVAR:406615 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b66f5d-0915-4e28-91dd-c69b6f1a2f0c CLINVAR:481173 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86f1192b-c233-4e7b-9d3f-402aa6f00e53 CLINVAR:481173 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7221c439-13d5-4d5f-86ac-cbd8a81e3568 CLINVAR:234904 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f079418d-ee3b-4a24-9af1-c29151363526 CLINVAR:234904 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c705cfe7-f22f-4573-8750-1dda8a85475a CLINVAR:981224 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb3ecb0b-2e67-4ee6-918e-3fe544f49009 CLINVAR:981224 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b60db33-1047-4b7d-945f-80cd813b5dfe CLINVAR:46076 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c863840c-5aff-43b5-bb59-7990fc4416e9 CLINVAR:46076 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 323a1246-1ed1-4b29-8bba-d9e00762cfad CLINVAR:102669 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 810a635a-cb4c-4f54-a8de-a0e3be75c4bb CLINVAR:102669 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00311179-5c4b-4157-9019-b753ba98f888 CLINVAR:554011 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f43bf12b-b213-4532-aee6-699b45fa17c5 CLINVAR:554011 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cf530e7-be0a-4f3a-99b5-1f381c18ebca CLINVAR:102724 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f7db2ca-7cd0-4ede-b625-eea34a315a21 CLINVAR:102724 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 441ce723-890e-47fa-9598-91de1f031b73 CAID:CA386299637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 178e62ec-124a-4cf3-bf59-1292c81f56ea CAID:CA386299637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4496460-435c-42be-8353-b925471c5db3 CAID:CA386295265 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fd933a8-b1ee-457f-a7f7-1824a3fc189c CAID:CA386295265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8086f56f-584b-4e6e-a8e9-bc147ae3cb18 CAID:CA1139532470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 293ea07d-9f56-4f42-b963-6461752f95f4 CAID:CA1139532470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21192301-27bb-4729-86d0-a4a20166ffc2 CAID:CA16020841 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e8e4e9e-e316-4172-8fea-919383c44b49 CAID:CA16020841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7af30f9-eea7-44d9-b325-5e5f5e8f5595 CAID:CA16020766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 612773d7-234e-4431-b5b5-f4a8a748b8ed CAID:CA16020766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be322896-4e3c-4c83-8768-d6d6170d8731 CLINVAR:102733 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce1a6159-0027-4490-b357-3b10634dc7a3 CLINVAR:102733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 577ae807-7388-4c8b-9925-88f8e448cbf3 CAID:CA16020829 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen daa99aa2-8fa7-4d76-8542-f37a2def81f8 CAID:CA16020829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc48e4e-8b7d-4a0e-b478-db3640ad252f CLINVAR:102556 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00ecbf82-7cba-4b72-bca1-fa7a7535bc08 CLINVAR:102556 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a1a730c-a621-46ac-aab9-ec03d7e0b881 CAID:CA16020787 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24ed9075-8df3-4d82-99e9-b58b7e94aff1 CAID:CA16020787 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa4f226e-6370-475b-9bab-4025218afd50 CLINVAR:92730 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 281c7a23-fe3b-4aaf-8b3b-09e86711ff13 CLINVAR:92730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3368451-ec1a-4f52-8e5a-db1bef7cb1e2 CAID:CA386304277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d6fffd5-6ae2-487f-86c8-3f20e778a594 CAID:CA386304277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39046773-dd83-4cf7-8c93-0d98a86492d6 CAID:CA386295865 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cff7c0b9-0577-4dd7-a39d-2ff014ef59f1 CAID:CA386295865 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a161025-199f-4d1d-859b-0c1703c9c5c2 CAID:CA6748922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f009260d-32ff-4d25-a837-7e6ca61c62f0 CAID:CA6748922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b500a38-fb46-4a57-bed8-7fa2683ee52c CAID:CA1139532533 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a3607f3-3c71-4b28-b3e5-9a35a0d50cee CAID:CA1139532533 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a2f34b7-3abc-491a-afc9-511db44b3bee CAID:CA16020961 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34bfd762-22a7-46fd-b802-8fb224675297 CAID:CA16020961 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbf43805-759c-4383-9335-c4898db83b62 CAID:CA1139532543 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07b2db62-9ab9-4cd8-a299-f93fcd15c83c CAID:CA1139532543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee0acf03-1a58-4a9a-b957-193c0a68dddb CLINVAR:102541 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 892205bc-ca67-4417-8a28-76411676e702 CLINVAR:102541 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e30f6ded-ac9a-4b80-8689-81732fb4d437 CLINVAR:458082 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 407dff8e-a212-422c-b045-9424e1e37cec CLINVAR:458082 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf2d260-7a0d-454a-8426-84f576617690 CAID:CA386304179 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72f9101a-2f91-4864-bc19-d23b7c2533dd CAID:CA386304179 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f764e0e2-fd30-49e0-9a62-5d3cfe9c0755 CAID:CA1139532534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1820a772-79b5-489f-89fa-30b6ddafa954 CAID:CA1139532534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98f0c31f-b634-47eb-bf34-66d17f88c553 CAID:CA481332664 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7241fcb1-3e94-4e82-961d-0eb78f869e12 CAID:CA481332664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cf17aec-486a-4ac3-a978-7f836c8172ff CAID:CA481333203 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b0720a3-89c8-420d-a132-afc3cd4beb19 CAID:CA481333203 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b788ad-ecb7-4bc5-af03-f998f0d8ff33 CLINVAR:571388 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c759da3-af64-49f2-a94d-077080f8b7b4 CLINVAR:571388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cf75910-30a1-4aa9-aec5-9db1d49b1cd0 CLINVAR:552279 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4ec5fcb-7e30-43b6-9207-0df4d179c859 CLINVAR:552279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1013580-2206-4af0-93f9-7111f6efe40b CAID:CA1139532590 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8678221-8b0d-4941-9487-e4c754535bea CAID:CA1139532590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ded4885e-4c14-430e-af4c-850b9698cb3d CLINVAR:631 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c34135b-b233-4f99-a840-e8ddb41ab0b4 CLINVAR:631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 031e0477-674f-4d03-afa9-3d7a80f34a56 CLINVAR:555138 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfa3cfec-1458-4038-851f-1d5d668d4546 CLINVAR:555138 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a5193b-7126-4d1c-a1fe-7e0a7aa15f93 CLINVAR:102638 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efaead2a-a340-4c62-9d02-e81e3ce2854e CLINVAR:102638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ce73cba-d2c3-4022-a4eb-f057d0962175 CLINVAR:102756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e68f272-fa97-4ecb-a754-b59cc6a78693 CLINVAR:102756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd663b7-c6d8-43df-a9ac-ddba4648b565 CLINVAR:102800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48a3c6de-3237-4192-81a0-df40f143b760 CLINVAR:102800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen defcc6b7-e134-404b-a460-9591a72ce403 CLINVAR:102796 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8ed0b2c-5d39-4f59-ac05-d6c95245eba2 CLINVAR:102796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 820cbd78-cd07-48d4-ac34-e7918fc2a516 CAID:CA16020786 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29304797-1290-44f7-b3e6-c1115650126f CAID:CA16020786 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0457b53-24c7-4b61-977a-1ba1d4979437 CLINVAR:551658 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 493bc0f7-26a0-4476-8730-b952b80e39b6 CLINVAR:551658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6ec75c1-f906-4463-8218-8834ee01313e CLINVAR:987913 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 224c3188-72e2-4c1a-95e5-df3255cea24a CLINVAR:987913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6113550-27ff-41dd-8d5a-81da72c83fc1 CLINVAR:102543 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e15f54c1-e1a6-4005-b85b-b83d1d8b9eca CLINVAR:102543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48b51f26-03af-4749-a235-fbc0f2dc0254 CLINVAR:102542 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e0e000f-0647-41d5-9b08-b120181fdefc CLINVAR:102542 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467ba1f7-72d6-499e-ae0e-ccd19dd9b7bf CLINVAR:102530 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb845491-7664-4a27-8364-93908795a0c3 CLINVAR:102530 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e99cf57-4b06-409d-9815-6dd67083012b CLINVAR:102621 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c80d70b5-fa66-442e-8ae4-e7b6b7fb09ea CLINVAR:102621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46d7a002-75d7-47a3-b217-67f784d8fe34 CLINVAR:102489 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec150543-077e-4374-a2f2-a5e4cb0db60e CLINVAR:102489 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2c64a0f-c246-4329-a477-ed994eb0091f CLINVAR:102734 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a144af6-9d85-4119-af68-6ed9fe1641e1 CLINVAR:102734 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 783f79ac-3de2-42ac-b366-e35eb7fb88e7 CAID:CA16020815 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75a4a6a3-4479-48d3-8236-7510b42c0a84 CAID:CA16020815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa036f9-d38f-47a7-9bb6-06a70533c9bb CLINVAR:102741 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 488b5c98-7a2b-4e19-b15a-57a4b1508699 CLINVAR:102741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ed4bb5-baeb-4033-b70f-6019812a1258 CAID:CA16020821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a8f47a4-9f44-48e9-b0a2-6393106db2ea CAID:CA16020821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47708da4-fed6-47a8-b6a2-e0556a2b7f7e CLINVAR:102769 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 423c4b05-a2ef-4ace-b845-c05c2413d353 CLINVAR:102769 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa37f7d-f9c7-4d2c-8ee6-1093dc50e316 CAID:CA16020838 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68eecfa7-3db0-41c6-a588-5c09f7c2c023 CAID:CA16020838 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30687e0-6d7f-461c-9931-b3bad2330e4c CLINVAR:4929 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9f18e5d-1315-4f8c-b118-a6d8afd2734f CLINVAR:4929 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82dcca56-7ae8-4e43-b619-6503c4407412 CLINVAR:43230 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d008669-3c22-4100-b808-eac6d10b6b23 CLINVAR:43230 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23955838-b661-48f1-8b01-652c15edf417 CLINVAR:984798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2217cb0-266f-4329-adfb-d4311bc34d2b CLINVAR:984798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0b59e3-b1f1-418d-b549-d566770339fd CLINVAR:984802 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cce8a46-ce97-4f1d-a68f-8533bdf8ffdf CLINVAR:984802 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 843b91c7-841c-4437-8f0a-49f18e40ac3a CAID:CA658795253 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 587a8d41-3e7c-4016-9dfa-1419958ff817 CAID:CA658795253 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deaec94f-1a3f-48d2-bc14-ebaf59b11306 CLINVAR:557360 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b527354-40a5-44f5-ae25-abc389341e82 CLINVAR:557360 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c229995a-8307-4f7a-952c-bd120e25e523 CLINVAR:984800 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16381df1-d551-477a-a3f6-c846205e9c67 CLINVAR:984800 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3177fc1e-32b2-463a-821b-2d253b8e732a CLINVAR:371302 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fff67f6-d308-4d0f-a81e-99e336ea0836 CLINVAR:371302 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c599fc7d-c3b9-44a5-aadd-96705fb2ebc3 CAID:CA401363371 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abb5d519-f37e-475d-996b-334b185930a2 CAID:CA401363371 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 826e2501-b7f6-425b-9a7b-ecfff3a7a802 CLINVAR:972762 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90b6824a-2386-4a80-8fb4-c1c90bb6ee1b CLINVAR:972762 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48322c31-17b6-4383-8d94-84ed6786dd49 CLINVAR:552839 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c554114-067c-4195-bf65-7a736a01075c CLINVAR:552839 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1adcdb0-9bf5-46d1-bfae-3f1c816b8d6e CLINVAR:423925 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04abaca4-fc82-4128-9215-ed77fbbf861e CLINVAR:423925 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3211fe5-7bf3-476b-a302-337d3417fa0e CLINVAR:370241 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f141930-1665-49a6-b336-89f1a11a4634 CLINVAR:370241 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03527d83-2f33-4151-89bc-5138fcd44a36 CLINVAR:456415 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6e2cde4-2b89-4c4b-8179-29c55085067b CLINVAR:456415 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86b015ae-fa56-4234-86fe-612f1d149ca7 CLINVAR:555040 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0993905-3738-42f3-a1fd-a47e8f19ed96 CLINVAR:555040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49337c96-6d4c-4844-ab1b-a67d09e248f4 CLINVAR:370458 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e540f493-2a72-4e13-b0e2-0dec1ef72376 CLINVAR:370458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5578c1c0-1c6a-4ea9-90a0-2f9c8ab7f25c CLINVAR:526523 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e89eaa6-f63a-48b6-afaa-fb1afba658d6 CLINVAR:526523 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bb44437-16f9-42df-9e6f-e2a39da0c6e7 CLINVAR:371580 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28128310-a58c-41d9-9f66-14e4175a0559 CLINVAR:371580 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ecd2046-dd62-45b6-adbf-2a7850b2dd05 CLINVAR:551530 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e56f9cef-6a59-40d8-85d3-f7806656d381 CLINVAR:551530 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56c355ad-3992-467d-bd4e-86da50bb6c4c CLINVAR:371501 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60a87633-e5d2-4468-8da9-59a32a0c8ef7 CLINVAR:371501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7f4d8f-6d45-44f9-8852-bc5b1aa5a7a3 CLINVAR:596146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e91fa439-780c-4032-acd6-07b1ee3d09ab CLINVAR:596146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31365e35-61fa-4ac4-8ad6-1a449eaa065d CLINVAR:189057 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6909ccac-361c-4049-b1c8-ab38542cad10 CLINVAR:189057 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde904f3-8345-4931-b1b9-7413a2edd449 CLINVAR:553981 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b27ed83-de81-4f43-9bf4-1adb1112b897 CLINVAR:553981 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf58fc7-6e50-466f-93f5-96abde48cc01 CLINVAR:550104 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2fab986-d6d8-4fed-b52c-392f65d0c5fb CLINVAR:550104 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cc03b27-0a0d-4520-ae53-b8853f7e0306 CLINVAR:188880 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 891f3130-2887-40ce-8fe5-511a57067a80 CLINVAR:188880 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1633b472-af34-490b-9300-990cea5084d0 CLINVAR:556534 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75bbd0fa-dddc-40c9-b210-422e96dbaaa8 CLINVAR:556534 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef6f87d2-2232-4bfe-831e-7ca417a131cc CLINVAR:656144 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0121e8b1-9c77-43ff-894b-1b635dc55794 CLINVAR:656144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80747d5c-7306-40e6-9260-f3a1ce48556c CLINVAR:282254 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6ad9c41-a1b3-4cbc-8e70-0b30f0dfa6f8 CLINVAR:282254 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def86108-71b6-4576-a294-35b070d43017 CLINVAR:597147 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98e8b063-52b2-4daf-b140-d9f9293e5867 CLINVAR:597147 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e107b04-7ace-40aa-a60c-9418ab58eed7 CLINVAR:370810 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7de39ac-f871-47dd-8cf2-b7e1ac53f9cf CLINVAR:370810 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd8920ca-25b1-4d84-bf5e-a6e7854f7fc4 CLINVAR:497032 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7939666f-68d6-402c-b4e0-e33b3f93d6b8 CLINVAR:497032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a38f3eb4-013d-42cc-9924-cc246aed7968 CLINVAR:370263 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01d12c81-c431-466b-b8d5-73a4dee815dc CLINVAR:370263 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a46f059-4ffc-44ab-9ea8-c23b8ba9527f CLINVAR:501294 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 856cea97-fd5a-4908-9502-0cbf895a27fd CLINVAR:501294 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6b296d7-7cfc-4607-859d-2c390be257f5 CLINVAR:4033 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fde41bbb-4b7d-495b-bb62-5c41b33af2a5 CLINVAR:4033 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ed5affa-6d16-4dc1-a530-a0c05a9d8c99 CLINVAR:370510 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1767020-bdc4-4d81-8d2c-ce9a6f1bfe91 CLINVAR:370510 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe7461a-3bca-40ea-b4c1-82c1947a5b59 CLINVAR:371457 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78f9394d-98d5-4216-9ea0-12d05cfb8b02 CLINVAR:371457 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df11badd-d294-4c8a-8798-063ef3a006e6 CLINVAR:552165 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fba36d01-5434-4470-8069-bc4c9ded062b CLINVAR:552165 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fca7c4f-d363-4919-9da1-bca835d28dd6 CLINVAR:420101 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9337402-bc19-4576-8534-3cab892420c4 CLINVAR:420101 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 133d7011-89fc-4d00-9469-fe7ca17db21f CLINVAR:556959 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b178a0e-ae58-4ffc-886b-a2eacc957e09 CLINVAR:556959 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38837179-48ea-4b0d-a744-47f9a5a639fb CLINVAR:370223 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84612c7c-1d69-4b5d-907e-d88e416a32db CLINVAR:370223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33e74bf9-38e3-4bde-be02-d7889e91f1a9 CLINVAR:556853 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17fde824-6858-4a33-991e-fc41d439165c CLINVAR:556853 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae135a08-5749-40b0-ade4-eb0021c75ae8 CLINVAR:188874 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cce14ec6-0bba-4d84-9001-110fe62d89e9 CLINVAR:188874 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e383c1-e1dc-46c6-87f1-4689377f8980 CLINVAR:694453 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7487857f-ae76-473e-9edf-f5a3c57e9534 CLINVAR:694453 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebf278b8-c5a7-45fc-8ac8-b734099b19fb CLINVAR:371433 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d25ca69c-e9fc-4582-8f63-e43883c23775 CLINVAR:371433 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7baad70c-54a5-49ed-83b0-b3e6b96a4253 CLINVAR:520974 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bf71400-8f97-4c5b-9fd0-f6db210620e8 CLINVAR:520974 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9a28087-46bf-462a-97e3-f9798b71891b CLINVAR:370866 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0b3a40c-863d-420c-8d37-f9f642429824 CLINVAR:370866 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef99345-81c7-49ba-a812-caba33a6488c CLINVAR:693996 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a357bc9f-5f1d-4320-9464-d1ecc3694e7e CLINVAR:693996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3346d9e0-8c7f-47f2-a6bd-96f7d2ce623b CLINVAR:632822 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d332fe8-89cd-44c6-8a69-6bec916cc914 CLINVAR:632822 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9836dfa-91a0-4709-9522-4f777561ffb8 CLINVAR:633225 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c66c464-6c52-43bc-90c9-3fd204a74959 CLINVAR:633225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04e4da73-c99e-41eb-bf29-636815fc5f3c CLINVAR:423932 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa6ded81-429f-4d60-b266-6c3b6e4aa1aa CLINVAR:423932 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120ee850-8fb1-47bc-b8a4-c1a4310b5673 CLINVAR:802700 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf08b24f-808a-4cf5-91c5-f2a8e62a1b9c CLINVAR:802700 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b771ae69-5565-4bd4-9f50-00c26e1bd3d8 CLINVAR:179260 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0a5a47f-c873-4677-81f9-a3ffd708794a CLINVAR:179260 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e268aa9-1969-4db8-a7f4-5f8220753ac2 CAID:CA1139533052 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3aec1322-5732-4efe-aba7-c5b0cf041504 CAID:CA1139533052 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4795bbeb-da71-49e8-978d-f3bfef42f830 CLINVAR:561252 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce12a16e-64f3-4558-a8a0-c98fd5c48eee CLINVAR:561252 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1def3b69-6148-4291-965a-1b34fbcb3caf CLINVAR:561236 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12660e1c-1114-45c9-82fa-d345913d84d4 CLINVAR:561236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a376a5-0ec1-4dc9-b472-600347ca5b2a CLINVAR:561256 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b934602-0d60-476d-8446-86b3b2d8240d CLINVAR:561256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75150ef3-e24a-400f-99fe-48e71bf79091 CLINVAR:561248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8526083-d0c4-4bbb-ab42-9d19d9a67acc CLINVAR:561248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab6b454f-6138-4c87-b71b-1c91b976b9a9 CLINVAR:561223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a3d5cd6-19c5-4b66-bdb4-6511358edf84 CLINVAR:561223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7620d142-4804-4533-bf0e-b9d3342d61a3 CLINVAR:376021 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c1a1828-7eb6-437a-961b-1699738b0a9a CLINVAR:376021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f3b8fe-4136-4599-ac04-6fa1a55b86ae CLINVAR:561229 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c4cf4fd-f60d-4b5f-b2fd-d384380d1375 CLINVAR:561229 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4945e206-b24d-4de1-aacb-e09af0573357 CLINVAR:561226 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8fc2bce-e8c1-428e-96a5-9e9c212b9ac4 CLINVAR:561226 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc5372be-89f9-477f-9980-e830d6615823 CLINVAR:561224 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb4ec833-e2d5-49d2-9710-7c7cafd1e279 CLINVAR:561224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc2747d4-c27c-4cfd-8a8d-b8d328e589b9 CLINVAR:376022 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cc73202-d508-41b2-8f59-04a8b88d2190 CLINVAR:376022 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5069664f-1911-4a66-8ead-1a25f4d8010c CLINVAR:376019 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f389fda2-39c2-4fcb-8f5f-d890a3a9b8a9 CLINVAR:376019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6b9ff92-7e17-4e23-8f59-714893ba1715 CLINVAR:376020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c06c0c4-ff14-44b5-a48f-bafa0a2b49d7 CLINVAR:376020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 275d2760-4de3-43f8-bec9-79566ddbfa66 CLINVAR:561244 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4306656e-1d1b-4874-8053-bb1b428a6457 CLINVAR:561244 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68d800b6-8b7b-4b35-9fb7-05bbc50006df CAID:CA16020802 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 043ec060-fe6e-4fd7-9ba3-3e785de4f1d6 CAID:CA16020802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb4fe7d-f012-47f2-a9de-fe863d996f58 CAID:CA386296833 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00fe9a61-0e5f-476b-8cb3-a6a2c8d6c344 CAID:CA386296833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7515104-23db-449a-81d8-65839cb5c4aa CAID:CA16021000 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f66f440-cbd4-4005-b514-81cb90b2ed9e CAID:CA16021000 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609b8653-2569-4b82-bfc8-6c104372f98a CLINVAR:1065372 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92c94b52-99ad-46fe-9d31-a59a857846b2 CLINVAR:1065372 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a133ea8c-0b5a-44c8-b702-c8fe3d8ee922 CAID:CA16020989 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cb9bd5f-6587-4951-94de-ff89f16ff0e4 CAID:CA16020989 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fe0412a-2d19-4b52-94a6-675a4265a27c CAID:CA16020933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbba5fb0-cb7b-43ad-bf8d-b1d2528be547 CAID:CA16020933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb36a49-4444-4f90-a237-da868efa7287 CAID:CA386299729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3731b19-0f75-46c2-ba51-456f97cd3d39 CAID:CA386299729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90d7d1df-d20b-4c5c-a114-0da274f62210 CAID:CA386294521 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 789928f6-10bf-415b-a891-eccd5f065d07 CAID:CA386294521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b041f740-d681-40ca-b1d8-f065f530799f CLINVAR:225134 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4dbcc343-6a38-489f-8090-7cbe138cc998 CLINVAR:225134 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aedb316c-974b-4f3f-aee9-4e2889293e81 CAID:CA386296582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9e84d25-624e-4c5a-8171-0c994cd78cc5 CAID:CA386296582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c535424-8c45-41b0-92fa-19b1e2692384 CLINVAR:1065380 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9067ef47-c0bb-4f28-98af-0ecb52e796b7 CLINVAR:1065380 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc9b3f01-781f-478f-98c4-f14e8ab34a47 CAID:CA378924686 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 678327f9-d99d-41bd-a93b-7caa52e2cdd0 CAID:CA378924686 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecb1a15c-84f4-4c6b-92df-5af3ec240c70 CAID:CA399806384 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5ce6565-c89a-4e77-bad4-40cc7d92ea16 CAID:CA399806384 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e56646-94a5-4153-b9da-9eb51bb2714d CAID:CA291224483 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 258099c9-a487-4e12-838b-1cbd649435bd CAID:CA291224483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96d68860-2499-477f-b1b5-be5dd2d7a166 CLINVAR:323867 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef34ecda-9598-4e1b-a85b-d386a35a8ac1 CLINVAR:323867 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f38606fe-5a13-4dd0-9255-a88f74c879c9 CLINVAR:631775 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 864c7656-f429-4eba-9add-f181972dc8ce CLINVAR:631775 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 992fcf30-579c-4e7e-b555-06b6d40aa037 CLINVAR:953020 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65b724ec-c767-4152-9bc9-a04fa922e2ba CLINVAR:953020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7859587f-1e1e-47e9-a86c-1af5a70505b4 CLINVAR:426669 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 887b8e76-5ca9-495c-bc63-de44827bb3ea CLINVAR:426669 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf655708-ff29-4a5e-b47b-7a7ae58945a3 CLINVAR:953003 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1bd7584-1b2e-4f43-adea-c4b046cd1f17 CLINVAR:953003 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70f6f63a-e449-4d3f-a45f-9f6e67dfb4df CLINVAR:417956 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18b685b3-8fab-4fa7-9ae0-d15119432b8f CLINVAR:417956 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e43cb17b-43ca-4145-8def-728ab415812c CLINVAR:953059 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83b8c146-ebc0-440a-8758-0bb36958f9df CLINVAR:953059 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 250c65e6-d557-4f69-b6c7-47236c60cc74 CLINVAR:695458 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96554352-4d66-42e1-9775-87b59dadcd19 CLINVAR:695458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ef7c20-27c3-45d2-a483-fee475b08707 CLINVAR:323870 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8be26973-48f9-405d-8fbc-58a8df3338fb CLINVAR:323870 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f773063-3490-433a-b237-81dacab778c9 CAID:CA8602626 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81e2ebd9-abb2-4776-8d70-6ec957a283f6 CAID:CA8602626 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 964886e6-405b-456c-ac5a-20d52fefb6d4 CLINVAR:2901 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 657dd925-43ea-48a7-a02c-b6db8c59fb9a CLINVAR:2901 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea85b4e4-0ada-48a8-9102-bb176805791f CLINVAR:225393 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b8fb3f3-9d32-4f55-894e-3b30853f7bb4 CLINVAR:225393 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f55050ca-5c25-49a8-9af9-39d80632191c CLINVAR:953015 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5396eeb-2682-4a18-b3a5-24bf9a4330ea CLINVAR:953015 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b9d0ef-54d5-471e-8bbd-300b164e16ec CAID:CA913189226 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3549367-98fb-419b-b5f0-f4002f0bff00 CAID:CA913189226 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6228b22b-650c-43d5-b08e-18870a53c03e CLINVAR:2892 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31845136-3acd-4f9f-b183-f47deea05b6a CLINVAR:2892 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b6cf84-fad8-4d60-94d8-db7c5208ad6c CLINVAR:953024 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa005c42-437b-49eb-8540-b24842987166 CLINVAR:953024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b82b9a3-4d57-468a-a18a-017338543fe5 CLINVAR:953041 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c4b6ae8-a585-454e-888d-77f86a254b4e CLINVAR:953041 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa56effd-5cf1-4c4b-b69f-60eac3f432f7 CLINVAR:953047 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1247c937-2ede-48de-913b-997e3fd07ca4 CLINVAR:953047 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f01dbe28-d165-4bae-bb33-3761713e95a2 CAID:CA399805421 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80e70e50-4412-42f3-9ef6-c17d1998c1e1 CAID:CA399805421 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 637825e0-2dcb-4fce-91cd-5ae9d0501be3 CAID:CA399805793 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06e9e124-17a3-4216-95e6-6ea02b768bc2 CAID:CA399805793 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb0bd631-1ed8-4bac-a8df-586284027fe2 CAID:CA913184940 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1596173-7f1b-4b93-9f44-637605948a05 CAID:CA913184940 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee862f1-5f52-4382-ae4b-2b3a16fb2c84 CAID:CA399802411 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5433f935-d6fd-46a9-a660-2c42ecdb64c0 CAID:CA399802411 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea3b7560-706c-411b-9a3b-08db9c4099b0 CLINVAR:952999 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5c5e0f5-5659-4d33-ac48-d11964290ad2 CLINVAR:952999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5065d043-4af4-4429-a70c-4024b6d228b0 CAID:CA658820875 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7394563-36f5-41e5-b790-d2e1b95f8e37 CAID:CA658820875 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2226147-20e9-430c-9ba4-5038814c6718 CLINVAR:627066 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ce1f6f6-4f70-4bc0-8f6f-a29f9973b332 CLINVAR:627066 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecd63a97-5131-4de7-8091-2c2e28c29caa CLINVAR:953043 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a046d032-ed11-4089-bcdc-87f51f7add2c CLINVAR:953043 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f854eeb2-c01e-4933-acd6-d2f04f3b22b7 CLINVAR:13554 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff3e9204-b903-48d9-a3a6-bf7db8a724bc CLINVAR:13554 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3656e0c-2c0a-4a7e-a4e5-29d16c47c9f5 CAID:CA290950376 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 171f994e-979a-489f-8404-0046d81272ff CAID:CA290950376 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d689388e-be4a-4edd-802e-801fefd5e03f CAID:CA399801310 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24ea0757-7f40-4c8d-9720-388eede372f4 CAID:CA399801310 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0583e54-3cfa-4c6d-b649-4ada6bcddb58 CAID:CA399805557 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e845f1f-74d6-4292-8d89-3e6a4812409d CAID:CA399805557 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d032e84-d5fd-435b-9d1a-ed09c30b4bf5 CAID:CA8602528 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3b91939-59c1-4136-abf6-f3afc2a2532b CAID:CA8602528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31e49c2b-7ca1-4f4b-ad65-63227dfe7be7 CLINVAR:953027 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73a158f8-5a1c-4465-bb55-68c41e2c067a CLINVAR:953027 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a3fba6d-23b3-4045-9eaa-c61c90464bdf CLINVAR:953051 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ff898e2-0024-4ca8-a424-608bc04e2270 CLINVAR:953051 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dff4970-3811-4bae-be8c-e6d41ed4d290 CAID:CA399804619 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6855e20e-8f96-43dd-9a66-215778f13851 CAID:CA399804619 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c3b3051-1732-42ea-b0d6-d0cdf0b9e922 CAID:CA8623358 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ed439fe-6719-49ad-8a9b-5a369cda9c5f CAID:CA8623358 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e0a9145-521f-4e35-ae5e-541d92e22a22 CAID:CA400028478 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f3993bc-94c8-46d4-b482-d7ffe024d011 CAID:CA400028478 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871a5da7-6a18-4d54-9c7b-b536b88e170b CLINVAR:953040 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9bd6b31-516c-44c5-88e0-9534eae56ae5 CLINVAR:953040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e004c7b-3579-4303-8f51-c888e7f0f083 CLINVAR:812736 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a52c578a-a040-48a1-98c6-5edcf98e9536 CLINVAR:812736 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6957546f-5862-42f5-b4b0-42884b87a2b8 CLINVAR:953052 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cca2f5d-890b-4f46-985e-5a283daa7efe CLINVAR:953052 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 250991d7-e460-417e-b08a-dac053593d1c CLINVAR:953053 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f3345d1-2328-4fb1-894a-251a04da833f CLINVAR:953053 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4b23214-7ddf-45a0-bf85-f3e19989d607 CLINVAR:953007 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7037a42c-9f62-4b73-ad0a-7433bbb36096 CLINVAR:953007 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 152d993a-133b-4b7d-8082-e7257309dcad CLINVAR:952996 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6256544c-c1a4-4d31-a8bd-ebd7d5fb0c5f CLINVAR:952996 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb5c28d-c06e-45e6-a202-4fc4bdd9c138 CLINVAR:2900 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8284c85-462f-4404-bbf4-d041fd1850b0 CLINVAR:2900 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eed8882-7f25-4181-92dc-b5b2ae9f4d74 CLINVAR:569057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 181636c1-3044-4fea-b73f-025a84e4922e CLINVAR:569057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625790f2-eb5d-45e0-9124-b4f1b1ffe281 CLINVAR:953008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 722dfa89-696a-4907-ab5d-0ee23160e6dd CLINVAR:953008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 218657db-b287-4374-bf9c-43e9546fba49 CLINVAR:381747 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea34a8bb-2583-449e-a351-dc3a2d6bfc1c CLINVAR:381747 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b60a54d-a2af-44fd-8ccc-cbaf31bcfe44 CAID:CA399802424 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 910a4909-ad58-45a7-914a-f88028d06730 CAID:CA399802424 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3593350-3ee6-4a6b-9ff4-31238d5d3a40 CAID:CA913189170 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a3117c1-4774-437f-8a57-e0572f78e096 CAID:CA913189170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 146a5f26-e529-40cf-8cba-2e48c15628e4 CLINVAR:953004 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7b1031f-790b-4fe9-935f-b544fd972eff CLINVAR:953004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b8e078-d276-4de5-8201-b7134b918398 CLINVAR:953001 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 005557c5-6c52-4461-8391-61a0502747a9 CLINVAR:953001 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29a46b5-41d1-4d4d-810d-2a8bf9f18dcc CLINVAR:953005 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15675f5e-d0bc-454c-b3da-93c63c1aa341 CLINVAR:953005 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d35ae930-4dfe-46f6-a040-1373b8618b70 CLINVAR:953044 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ba03e84-360b-4ad2-8a00-91372e6add81 CLINVAR:953044 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df956f4c-2963-4ba4-b715-70e4672a14ae CLINVAR:631774 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c5ad791-2877-4044-9923-1371615cf19a CLINVAR:631774 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33e9294-ee90-4440-beba-43349e35b1dd CLINVAR:953061 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 589ebc58-fa3d-48fd-b470-6bcd57ced7da CLINVAR:953061 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e1fac4-558f-4ff0-9acb-5d073dbca544 CAID:CA8622899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5eac02a2-9d39-47a6-82b2-0205798fb490 CAID:CA8622899 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb141156-6707-4315-97f7-4e39ab55dd76 CAID:CA400033055 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68d47c79-41be-48bf-9a98-a86ac72418d4 CAID:CA400033055 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f056f3bc-586a-4b24-910f-eec6777356d0 CLINVAR:953010 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28beeb31-62fa-4236-9cc6-0dd236cd822f CLINVAR:953010 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 952ca55d-a6c9-4da3-a259-14eab4f5e8fe CLINVAR:953029 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32604471-cdef-405a-bf55-efb673d576af CLINVAR:953029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79590b4a-9c1f-40ec-a0b6-920ad2f6bc2f CLINVAR:953018 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac342ce6-9c99-47fe-8c22-66a7f842f7f3 CLINVAR:953018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bd24051-1398-4a97-b751-5c43326dab4f CLINVAR:996156 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfaca8f5-b033-4bc1-b4c7-a103fa5d98fc CLINVAR:996156 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e767781-5c97-422a-9a59-26f745e6acbe CLINVAR:2895 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf089e76-01f8-4582-858a-0dceb4f0bf25 CLINVAR:2895 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f8af0c0-8096-4891-804f-2f945fbfe9a1 CLINVAR:996168 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4100edb6-d0af-4fc0-9e35-10f9c43991dc CLINVAR:996168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dffe9e15-fda3-46e5-a31c-5fbe6572d8d8 CLINVAR:996169 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3744c9ab-0c02-41a9-92be-e0fe5a62ccf6 CLINVAR:996169 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f4b69a8-f737-40db-b4e5-23e46330fccc CLINVAR:996170 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6ee988f-9ab9-4ad3-8c93-c8e6ccb8cf39 CLINVAR:996170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83136f41-65ed-48d0-b32c-8bd4571ed3dc CLINVAR:996171 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c2c5295-e580-4cc6-b4b0-ed8e18aaf08a CLINVAR:996171 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce41877b-4197-485c-a3a5-8436cad5e4fe CLINVAR:996184 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d055a7cd-2e18-47e9-8ece-5c6f59d95e70 CLINVAR:996184 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56251247-2ba0-4f64-a795-453d7415109d CLINVAR:635 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aec2d24d-e2cb-4439-8c9e-eef88029dd81 CLINVAR:635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d60589de-1c57-4fb0-b890-f2995263dabb CLINVAR:638 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e587b74d-b8a3-44ca-93c3-c2f39e7186ff CLINVAR:638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa045b81-3a31-46a7-af8a-26bf8b3f705a CLINVAR:928885 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c90fc571-f777-4bb5-a49a-5e69a05e44f9 CLINVAR:928885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca96fbdd-48e7-4f71-8cb7-fba1ee4bf306 CLINVAR:552657 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce0cd642-7cbe-43ca-bd7d-2de205c0a020 CLINVAR:552657 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ada9a76f-04e5-4a26-8171-b5c43131dd2e CLINVAR:551103 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3106039-bd1e-4967-a6bf-895bcc183ac5 CLINVAR:551103 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e9322ca-cf14-4fb5-be6f-e67c66c244ee CLINVAR:102602 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f008b0e5-2e89-432d-adef-dffcd6231bb1 CLINVAR:102602 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab65bac-e02a-4de6-98b7-7b042c16cd2f CLINVAR:996175 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 676e5fb6-9cb1-46d5-afc3-01c5b03c966c CLINVAR:996175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02503a93-1f40-4801-91fe-4221ee6b6c50 CLINVAR:627218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21434ee6-a345-44bd-8dc5-90a32c0c4a1d CLINVAR:627218 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0478e0c-35c6-4c1b-8598-4b190e69d129 CLINVAR:996178 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3a39ec3-bed1-42b0-b635-5ce828f21a55 CLINVAR:996178 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f10d4b9-f070-4973-9a31-f150c34bce10 CLINVAR:996159 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb6c875a-1753-4a09-96d2-6a40edd2decc CLINVAR:996159 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c754cd36-8f83-4f18-98d1-e701f4ea352f CLINVAR:996165 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d860874-ccf6-4599-90c0-3c2bcfe9eeea CLINVAR:996165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d135d1e1-f592-41b8-b518-17767dcbfc51 CAID:CA290949843 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58fafa3e-fa8b-4993-8e67-ebf6e05a00a6 CAID:CA290949843 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b888ac8a-021d-4a1e-8459-7a107d44b310 CLINVAR:2893 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c08de74-0e2f-4d30-9e5d-5696827b4276 CLINVAR:2893 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e8520e7-496d-4ff6-8576-186515a2f0e4 CLINVAR:996176 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12f35bdc-21b7-4ac1-9948-78855549ab1a CLINVAR:996176 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fe3f3e8-168b-46fd-a426-8d7fd04ad2d1 CLINVAR:996180 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 861bebc2-9557-4717-b0b4-d45a40305e2f CLINVAR:996180 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59758e85-f4fb-45fd-9063-0e2197b67ac4 CLINVAR:996172 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 205311f5-996f-4a71-b57b-218c5c589e62 CLINVAR:996172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11f4c37b-0628-4aa5-b966-13ceea58b8b8 CLINVAR:996161 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4aac1755-e1a8-4d9c-90c0-4f83b06e37e1 CLINVAR:996161 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1d39dbf-45f9-4035-ba73-241d4ac1e434 CLINVAR:996173 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fa83e35-893d-478e-835e-9d1e3c0c27a8 CLINVAR:996173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d689d002-2296-43d8-bc12-38776dca3afe CLINVAR:627131 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf5344fc-cf04-48ad-ab69-2239295980fd CLINVAR:627131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49d4701f-4dd0-4e05-b68e-a128a470fae3 CLINVAR:996207 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fb52e26-c613-4ea4-95de-eb5b72704945 CLINVAR:996207 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b2c3ccd-993c-4192-b1c1-78ed0dff2b00 CLINVAR:812735 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cbc2660-5610-4e33-b467-f4bfb082931e CLINVAR:812735 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a552cca-d6f8-408b-8d3b-fb65adbc190f CLINVAR:323868 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be6760b6-cdda-4c84-953b-669491f7406f CLINVAR:323868 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3947540d-ec6e-454b-831d-bdddc0d0cf55 CLINVAR:996177 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2afe2a0f-5933-42da-92d5-3e574b6d6fee CLINVAR:996177 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 948f6f45-7da7-4e88-9ec3-d5beeaaf72c9 CLINVAR:50233 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b8d7276-c1e3-4b3c-96f1-2ab032e92385 CLINVAR:50233 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0af3bdc-b83f-4c7a-8f9d-907702c40a31 CAID:CA399798321 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49141294-74fd-494a-86e4-f531fe096bba CAID:CA399798321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6909bfaf-c13c-4ecd-ab86-9c725fcd9217 CAID:CA400032726 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84a406c2-c95b-4d9c-8d81-b1652f39835c CAID:CA400032726 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2293cf80-49a3-4d9d-8cca-9b98c1d050fd CLINVAR:996187 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 937319e4-9d04-4634-80ab-887c8b1309bf CLINVAR:996187 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d18ffc50-40dc-470d-8817-27e739e931e2 CLINVAR:953045 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4f657a0-d6fd-4b62-a325-4e2915bf1cf4 CLINVAR:953045 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4812ab14-f163-4591-9584-851d626b8724 CLINVAR:996160 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3beb550c-597f-4a77-85e4-de2baeb99dcb CLINVAR:996160 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34af1b2b-7275-4299-95cd-73401797cd2f CAID:CA8602986 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 200c213b-0296-492a-abf7-dfe36d2a2967 CAID:CA8602986 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1397900e-31a5-4b22-9bce-4be563832a16 CLINVAR:953034 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88025d4a-b6b2-4a4f-9ebf-0ab531d4c655 CLINVAR:953034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 395a067d-d8ff-4292-b595-18dc69e6d60a CLINVAR:953021 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13c8a142-04e3-45ce-9b02-b18b86f3de2a CLINVAR:953021 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43175b12-f4f3-4f45-bd4d-fc704e65e92f CAID:CA290949031 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96c5ab21-91ee-4b20-9e9d-25cd35695fbc CAID:CA290949031 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe7e6cb-0ed2-4f7d-9d3b-207a52b86da9 CLINVAR:996190 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c472fc8b-89f5-4d49-80e0-2ac086f6ea2d CLINVAR:996190 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b4e58e-065f-4f64-93ae-3ffe20f4455d CAID:CA290955739 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3456db1-4d69-44b1-beb4-1c72cce1e404 CAID:CA290955739 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0368d95e-49bc-45b9-b587-bf35ee197374 CAID:CA915940289 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f61d7305-a5c7-4bdf-9220-2c21de4d4afb CAID:CA915940289 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f0a00e1-852c-4225-86d9-51a44d6b2ea6 CAID:CA290948990 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd2bc0a0-dab1-4371-a671-255ae3338253 CAID:CA290948990 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3b918ac-47e8-4b02-b177-9b2fa0763959 CLINVAR:996183 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 716db22c-8d1e-4b6c-becc-a3d9bab469bb CLINVAR:996183 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f9bbbd-3959-49ee-a0be-bf08bcea8881 CAID:CA915940315 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e94307c5-adfa-48d6-b109-6b6e87ded7cb CAID:CA915940315 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 267a0ffb-8e57-4f18-8f25-06df821bcd08 CLINVAR:996212 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e8ad9d6-307a-42cf-a0ca-fa040fbcff45 CLINVAR:996212 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03a8eb3-c3a5-4756-8c5c-394080358ccd CLINVAR:996202 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ade16a9-b11d-4fbd-9e56-765bc5166814 CLINVAR:996202 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2efebaa5-88ab-4162-95fe-1565e1a326cf CLINVAR:381748 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59b9dc64-f1b1-487e-9b33-8c7216bbd172 CLINVAR:381748 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c223e7-70a9-4956-980b-72dc69db84e3 CLINVAR:996174 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b48db55-3676-47a5-962c-1d31d1808fb6 CLINVAR:996174 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abca6a37-d6d3-4f51-b1e2-56fb83620499 CLINVAR:953057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad4d7625-5e87-41d6-997d-d781b7b0f787 CLINVAR:953057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af53b598-41d0-4f4c-96f3-0848ff0fa591 CLINVAR:627299 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c277743-a77f-454a-b1b2-106f9a52bacd CLINVAR:627299 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ba86abc-1908-4ec1-84cc-6fcff3ebbb46 CAID:CA915940790 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7949902f-07a8-4fd3-bb1f-774d1d65ac18 CAID:CA915940790 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 054a4f72-934a-41ef-9007-9fc1f1c7ecf3 CLINVAR:953030 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9f86415-38a5-45d5-b5cf-c0d76f253a05 CLINVAR:953030 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc96727b-5a1b-48cc-ad9e-d8d9b01404f7 CAID:CA400032825 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf7a1c0d-484b-4606-83d9-6c516f78b6b9 CAID:CA400032825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b73dbbf-0a7b-4185-91e2-0af7f161a689 CLINVAR:627103 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8da6758a-5f82-440e-a234-c078df5f880e CLINVAR:627103 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92656c3a-5eb1-4357-b5e4-d673219f5912 CLINVAR:996158 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3a64fc3-b730-4b9e-aaf3-0aefc2fc5d9a CLINVAR:996158 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c58ea1-3d8b-4b23-bfe1-bd191fa44ddf CLINVAR:953014 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7244f72c-2a70-449d-9dde-0350943717a7 CLINVAR:953014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24b53558-c60f-4694-b464-2f4ea70001f9 CLINVAR:996201 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen beba9fa0-45c6-461d-9c4e-0eb38ae2ae9c CLINVAR:996201 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd28f8e5-9f43-48f5-8720-574f7dc990b8 CLINVAR:996203 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72214597-252a-4cc0-b0fa-720e8e14aba0 CLINVAR:996203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52cea029-5bfc-4c31-9f3b-cb7c431ae07a CLINVAR:996208 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ced26c6-d750-4a90-ba9a-1fe972d5fde1 CLINVAR:996208 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89303aff-e056-4855-88b4-92592769e73e CAID:CA8622852 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7049bd9a-047d-43a4-b257-d5fb324b5189 CAID:CA8622852 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5781a505-9740-4633-8fa7-5d9f08544b42 CAID:CA400020703 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9507313-e3e5-463b-abf6-c1d96b80dec5 CAID:CA400020703 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a8eb19-513f-42cd-b23a-126ede401fb0 CAID:CA626224450 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa655c39-8bd4-4827-bd53-49fded33ec1c CAID:CA626224450 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4036bdb-2f83-468f-8b47-d5d33c6e1014 CAID:CA400025022 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fea0aa85-86de-4d27-a875-484efb8e27f5 CAID:CA400025022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 194ceb7b-7d96-496f-a4fa-d5d9f6527f17 CAID:CA291224887 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d790c24d-0c6d-40fe-91cb-efd90f603bcb CAID:CA291224887 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68c8530a-84b8-4575-aa87-6cb427a32107 CLINVAR:626993 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f867873-a08e-4fc5-9d86-d501bee92d99 CLINVAR:626993 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27c8f429-04a9-40de-8059-8808138149a9 CLINVAR:691627 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8869f44e-95f3-4cd2-a647-404d8727ec03 CLINVAR:691627 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6e1d165-a0a7-4e4f-b8f2-7207404fdea2 CLINVAR:996181 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bac287ac-22c7-424d-80da-1e47d37525d3 CLINVAR:996181 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29ea258f-c9e7-4007-89a1-85c95fcf8417 CLINVAR:50232 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06dffd45-38bb-411a-a5e5-76ec0cfb1928 CLINVAR:50232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf24ca28-23d3-4d13-b5d6-0bd09402a4e9 CLINVAR:953039 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfe98ec0-2e4a-4f00-83b3-98532e90724a CLINVAR:953039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a863f9-b3b7-4fb4-a554-ee9ecb5ff1cc CLINVAR:626927 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a096e66-8e59-474c-ad14-571fe22f5f3e CLINVAR:626927 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 753c205b-6e91-4ff2-9a37-d692198525ec CLINVAR:953058 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70a28636-6702-4b3a-b173-3178b8919d90 CLINVAR:953058 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 695ba7da-efd9-41ca-b8b6-ddd89dc2ad57 CLINVAR:953035 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8198168-4598-478d-9c45-3b7c2f207ca2 CLINVAR:953035 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8f848cd-1a56-4d84-8a4c-005243d0215b CLINVAR:996166 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecffdc7f-1b06-42cb-b860-248986a4bec4 CLINVAR:996166 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf4fa64e-f3cd-4fc3-9e8a-fdaeaa2fa497 CLINVAR:953036 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7fbd733-fcbc-4f2d-9d4c-9c4d2ef1cea5 CLINVAR:953036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa57acd-5969-4ece-af32-45bdb93cc819 CLINVAR:996189 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b10c095-126c-4127-8daa-cd172111ff6b CLINVAR:996189 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75d8a3ad-3a12-4d78-8eec-2293b8092ba2 CLINVAR:996182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5257a423-23d7-4b6d-9229-f9e5bc6d26f4 CLINVAR:996182 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55a2fcd2-2fcb-42d3-864e-12c888b866d6 CLINVAR:996200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09e732ce-de8f-40c4-a13e-1124d5f752be CLINVAR:996200 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b301c6-57a7-4c22-9e8d-0a1e49ac9478 CAID:CA400023596 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06ae96e8-f125-45cd-93f1-9036d2bb0ebf CAID:CA400023596 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f7ea20-1d14-4d97-91b4-3e11764b3081 CLINVAR:996205 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b9025ba-7dbc-4461-95bb-8990536fc742 CLINVAR:996205 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec94d1e4-1748-4498-894c-a244bd4518b8 CLINVAR:953012 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e78321e-7bf2-4618-be02-29107e599d2f CLINVAR:953012 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 772b9c84-b8da-4df3-b67b-e3ebcc0b38ee CAID:CA290954352 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d48eaf5-8a82-42b7-88fa-f43c94d36137 CAID:CA290954352 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe4dc5b2-50d0-41a2-9e81-2f4887355d04 CLINVAR:953038 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72b3c947-48b1-4153-9400-e6c2d1728575 CLINVAR:953038 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59689079-3e13-411b-b1bf-512c430a2cf7 CAID:CA399805155 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84b34265-b2a6-43a1-8e1c-4f6de7b77690 CAID:CA399805155 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08b31199-84bf-4bcd-99cb-6007b2d1d3b4 CLINVAR:73556 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c5fe36c-ee0b-4a63-ae7a-c52feb2bcab5 CLINVAR:73556 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2f0a1b7-a047-4e39-8b24-efc57c5e3446 CLINVAR:203872 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85a68e01-3fcc-486e-87fe-4d03e4e881c8 CLINVAR:203872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c98683c0-5ea6-423d-b490-e5d718bdfd8e CLINVAR:883981 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81358ec5-c519-46e6-b543-a57a17927f6f CLINVAR:883981 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d1f58d9-4eec-4392-93b4-43d883034f0e CLINVAR:620 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 673a77fe-3b72-4909-b7b3-4f9af4a6765c CLINVAR:620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef3b5e2-e4a2-4243-9d53-572d5f06b996 CLINVAR:102914 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61d11732-d687-419a-b334-9f69f68ad700 CLINVAR:102914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2963060d-1f98-4fb7-8946-69c1e62b22fa CLINVAR:102517 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd7fc0dc-7ffb-4133-89be-63c7e4080678 CLINVAR:102517 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e8ca7e9-7fd4-4b18-942e-89d296e408a9 CLINVAR:102794 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4c49905-f621-4d08-be7a-b17a71920e75 CLINVAR:102794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b431f6f-f21d-467b-b445-a1a0d7a6b839 CAID:CA1139533026 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5258bb6e-0562-4171-a2d0-84d766213b7b CAID:CA1139533026 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0383232d-ba81-4737-ae95-79c1e721dcd9 CLINVAR:102508 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f523de3-ddc7-42bf-9888-b20dd18823ee CLINVAR:102508 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d27f3db-7c94-44b4-8cb5-ef83538b35dd CAID:CA645584081 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85eaa67b-5a5f-4329-86f9-cd40ef3b91a8 CAID:CA645584081 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32c84d9c-e000-486d-99fb-20fcb05027fa CLINVAR:558091 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cccbb6a2-cc24-4501-bbcc-792bc0942dbc CLINVAR:558091 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d2da4b-3759-4e49-bedb-a89b3cc457bf CAID:CA16020897 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 311bd121-957a-4b9c-b211-1d4c31e171b1 CAID:CA16020897 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba87f053-83e6-42ae-8770-a98bbf3b3e4f CAID:CA16020853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddf8f8bd-33d4-41c8-93b3-2a847a3a7502 CAID:CA16020853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7efefebe-f070-4280-9f95-2b74277dcc22 CLINVAR:102501 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4fc3dda2-e0c5-4e33-9df8-b620314180d1 CLINVAR:102501 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec2672dc-1e80-4380-b948-1c8187adfa1a CLINVAR:590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1706ed26-5c71-42c2-bc4d-a1d23109f835 CLINVAR:590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e396f89e-d602-4745-976a-b5c0c4b2f0f8 CLINVAR:446524 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38617c21-1fcc-4ded-a785-72b51cc381f9 CLINVAR:446524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdfd47c9-8b75-44f5-be4c-9fcbf0ffa1ff CLINVAR:120290 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69b6d6b3-a772-4b3d-a62d-df1804601677 CLINVAR:120290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be229bef-c96d-4333-a5ce-e547dcf12789 CLINVAR:102883 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b464154e-30e4-45e9-8378-df63f84d6fdb CLINVAR:102883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3bcc6ff-6585-4329-91fe-fa6ce61acd5b CLINVAR:12969 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6911b7c-9fb9-44da-9449-44693073dc3d CLINVAR:12969 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31672983-e4c8-4892-aa70-8e828bcd4ef4 CLINVAR:12993 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31fdeeb8-8a97-4bf7-a267-65547ed151d5 CLINVAR:12993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baeb61ff-649e-46dd-b6d7-5329420f58d8 CLINVAR:133101 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1c83405-677a-40ab-a588-18299d22daea CLINVAR:133101 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb826817-c115-48da-b59a-57ba24c03077 CLINVAR:133108 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec3e5925-9ef5-48d9-bd35-1f34cc5dd772 CLINVAR:133108 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c467a2-8866-42e5-936b-d3908201666c CLINVAR:133193 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5263910b-94c8-4163-84ee-15634c2e3c41 CLINVAR:133193 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac21f61-00fc-4e0b-a52f-77cd3f3b71d7 CLINVAR:133207 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2c65e43-c4b7-48c9-851f-14ddc13f228d CLINVAR:133207 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a1d461-c51a-41cd-a4a3-628e771695f0 CLINVAR:161371 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb07de87-7440-4c84-b99c-b2f2cd8e9311 CLINVAR:161371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ade6b61-e896-41d8-9f5b-f77cb9939a45 CLINVAR:1214007 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d283bab-4c49-44d9-aae2-69d98f76efdd CLINVAR:1214007 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c09f29f1-1fbd-4eba-85d0-51bad1e8febc CLINVAR:133117 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6942c63-fb29-424d-b8cf-65a5577528d4 CLINVAR:133117 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edbc9251-c285-43a1-8f10-1c90e7854e36 CLINVAR:133094 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c40857e-7765-4c45-9e52-88d72a14bea5 CLINVAR:133094 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4b2061-b4a1-478a-964c-ad0223517ade CLINVAR:133204 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61551d71-2791-4292-88c1-cf5331e6d2f8 CLINVAR:133204 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5795e99-aa0d-488d-a5b5-e2145cffa82a CLINVAR:573252 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3f87613-1efd-418d-a62d-453c0880c96a CLINVAR:573252 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c9da4c8-dc6d-4677-943d-a8bf1e6dda77 CLINVAR:635269 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0df2934c-b889-4da3-bf9d-926133988e80 CLINVAR:635269 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f24e84a-7f8c-4b62-a6dd-ca5ff0236388 CLINVAR:133242 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd30e720-b126-448c-914d-36c18ec3584f CLINVAR:133242 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7b43973-4b81-47d8-8645-ae88ee841503 CLINVAR:65927 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01f443d2-2951-4e17-bc25-8daa130401ec CLINVAR:65927 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e1a8b12-d4b0-422f-a71c-220f88fce455 CLINVAR:133030 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a32d145d-5d61-4656-a649-00a94188247b CLINVAR:133030 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8f5c9cc-b9cd-473f-99c0-1d31eb7fe492 CLINVAR:161374 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfc8b08f-4452-4eaa-8800-f78eba0312cc CLINVAR:161374 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0823438-6373-47b6-acfd-57d07d86c091 CLINVAR:133099 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1926e22-163f-4ecf-966d-1c4c1e4804a0 CLINVAR:133099 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b0c41f4-8ffe-478a-9b91-0e52deb46d80 CLINVAR:133182 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29aa930b-9f8a-4f16-b092-c2b24312faa6 CLINVAR:133182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2887318-4ce8-4603-8e78-5bc036d05323 CLINVAR:133102 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fabfa3bc-6e06-4537-963b-48ce54b4466c CLINVAR:133102 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d29bc17b-4c54-4d12-bddb-0b221993c59d CLINVAR:133245 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 991819bc-fa17-4270-8eca-e98f0659e7e2 CLINVAR:133245 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3013dc38-a680-4605-aac5-cb4b8866175d CLINVAR:12964 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d64a6bb6-8153-4bca-b393-31bdf919179d CLINVAR:12964 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0575372-3930-418d-a679-42fef88153a4 CLINVAR:133147 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d89d3be-8276-455b-b892-1ca375ff3c2b CLINVAR:133147 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33abdc39-abed-4b4a-92f0-053c2ddec92a CLINVAR:329061 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f31a88ea-5cd6-44e8-891e-7b832c9854d0 CLINVAR:329061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c7975d-dbc2-4946-af38-a3958cf47dc3 CLINVAR:133133 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55482e4c-e3f4-454f-8109-b74610f296c9 CLINVAR:133133 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bec57768-363f-4590-91ff-d953cf1d0380 CLINVAR:133004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5695ef7b-c255-488e-ae39-68b569d920a1 CLINVAR:133004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 420bb7eb-d4a1-48e1-9070-e82dcff32ad1 CLINVAR:133132 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15a77295-8149-4675-9940-7ce61cf42186 CLINVAR:133132 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f804fe63-a45b-4544-ac7a-c3974de02819 CLINVAR:133171 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4bb3d1f-e08f-4502-8f9f-834feb032525 CLINVAR:133171 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e652de5c-1f2e-4b60-95ef-08aa4032fe1b CLINVAR:65984 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94e953ce-d0e5-415a-8423-395e785f1af0 CLINVAR:65984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a81d4339-57d4-4074-8f05-a29a8b6217bb CLINVAR:133136 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 115846b1-57ff-4abe-b978-e147ef7a2203 CLINVAR:133136 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601dc761-81a7-4a90-9004-f2576746bd53 CLINVAR:65953 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7716ef0-76cd-452c-aa1a-30c9b0d8d666 CLINVAR:65953 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cfde8b7-e7d1-48a6-9db5-0a2f686e8c5f CLINVAR:1214004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8a43748-e770-42c1-aca2-1e2e168f3948 CLINVAR:1214004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a77afc6-bf8a-4530-b3ad-6095624e7c79 CLINVAR:12973 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63c32b5a-6b57-4d37-9880-50c1e71b82e7 CLINVAR:12973 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33dad504-9760-4974-aa0e-988ded83e316 CLINVAR:1214001 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14fc5abd-2e42-4109-bf44-7ecdb096e290 CLINVAR:1214001 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a07b874b-8eed-4c89-b8dc-701859a375c1 CLINVAR:133003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b02bea4-b6fc-4110-814d-382439f284b5 CLINVAR:133003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb84162f-8612-44ef-840e-47b1e016b883 CLINVAR:590508 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 562e1b0e-b660-4ef7-9e4f-5f4208a3954b CLINVAR:590508 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1adc2997-1526-483d-859b-ae923f081281 CLINVAR:133139 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fce3dfc-23b5-446f-81a7-c86ba5240281 CLINVAR:133139 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdf368b1-f3c4-4767-823d-f48e09a2fc10 CLINVAR:1214000 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a610724d-d31d-453a-89ce-d892187d9951 CLINVAR:1214000 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 220c7995-b4e9-485a-852d-c2d7f94858bf CLINVAR:1214008 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ced12488-6196-42cc-b611-f23495345309 CLINVAR:1214008 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad4265db-e83f-486f-8343-0458e09dd462 CLINVAR:590585 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b6d7754-16c1-47ca-a8c2-4a475e706a90 CLINVAR:590585 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c17fc2b7-9d7a-4363-b721-558bb8673284 CLINVAR:133045 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5070e4c2-04cd-466e-b216-be7a528e9b42 CLINVAR:133045 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 638efec4-965f-4905-80c3-21799f971e14 CLINVAR:133122 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ca00808-2cc4-45f9-9299-55bcbd371c80 CLINVAR:133122 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 725ab355-58a9-4a6d-8cd0-2e4eeacbcb68 CLINVAR:133076 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f22e9613-d92e-4ef5-b34b-1ca37f8ca744 CLINVAR:133076 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 924e3522-c20f-42cc-b90e-d5de04b9c4c8 CLINVAR:132995 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a795f144-fca2-4e4e-bb70-e3bd8577608a CLINVAR:132995 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 508aa9fe-0804-4ece-988d-37d0d935692a CLINVAR:133141 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5eccdfb-da92-4ea0-a170-df05be450cc3 CLINVAR:133141 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 676ead40-1787-45be-8837-6d0f102142a3 CLINVAR:448182 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8d759b0-ef5f-4cba-8660-ec87f8ce5762 CLINVAR:448182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7564269-a10d-4f1f-9260-7a743bcc6fb4 CLINVAR:478267 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e0eb597-ad39-42ed-94d1-11f4e1474511 CLINVAR:478267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbcf96ee-68f6-4d9d-bff8-db850980f137 CLINVAR:133129 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbca0409-853b-4899-bd1e-4143810c17e4 CLINVAR:133129 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b1d7ad3-bfd5-4b74-a1b8-5adbacd9d000 CLINVAR:133103 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44cb1877-43cb-41c1-8ea6-27117958308a CLINVAR:133103 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec47a89-c56d-421e-877b-fbec6950a663 CLINVAR:132992 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50ed3205-d1fe-4619-a1c6-b62e9058e01c CLINVAR:132992 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9833074-5e4b-4288-ad1b-4a4fde19e4fb CLINVAR:1214005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75d9d1f0-5229-46c1-97f1-e326f7cdaf03 CLINVAR:1214005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a9c9e9d-9a53-46a1-9bd0-0a7a3db11b5a CLINVAR:133137 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbe0c597-6286-4198-b3e0-a632f8a5d3b9 CLINVAR:133137 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ed51e4-f1df-471a-a82c-ff39d918c8b5 CLINVAR:65932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed2faa5d-74a7-489a-87dc-70f6e5c006d2 CLINVAR:65932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2177491-9d03-407f-9410-4d08257e91d4 CLINVAR:478260 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d40118f-8d26-429c-a215-304f5d32e6bc CLINVAR:478260 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ac7aabe-efbf-4ee4-812a-df72b44d8839 CLINVAR:133170 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09eeb4db-20d6-4bbc-8ce6-a5adecce60fa CLINVAR:133170 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde80dbc-680f-4abb-a252-967736c4009c CLINVAR:65993 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73ae9664-81c0-45e2-95ea-8fdcf053b453 CLINVAR:65993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34032516-4bbc-44eb-a447-584f79c8c119 CLINVAR:159840 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c21d6469-b699-42ea-8a32-68bde6a92264 CLINVAR:159840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df616041-8c15-499f-8ab9-2d6ea55f17c0 CLINVAR:133140 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73585c85-bcd3-4d41-936f-00b6589ba7ee CLINVAR:133140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb3f356-f70e-426d-b795-ce882d2b95ea CLINVAR:291315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0332064d-d782-4b5c-9bb2-6ded23054d3f CLINVAR:291315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf72b9a-761a-4285-8c86-563a69d646d1 CLINVAR:1214003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ad81d4e-a711-422a-bfde-32325fc83eed CLINVAR:1214003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6142b6bf-4cc6-4016-af12-9f269e022fee CLINVAR:133046 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78db3e2d-312b-4984-be81-b5b02b5938aa CLINVAR:133046 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15f027dd-df0b-455c-9413-336c4832b86f CLINVAR:1214002 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1df060b5-ce64-4069-9e8e-31455fd3b7c6 CLINVAR:1214002 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ef1fbd8-6d76-4a23-a8e5-58a1e993058e CLINVAR:803553 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d259b4f7-2abd-4205-87a8-5bbeb345c032 CLINVAR:803553 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9895c03-56e7-4ba0-8fde-ccd7f054a6cd CLINVAR:212100 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d12de7ba-9622-463c-ac6e-49392d95c378 CLINVAR:212100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea95c78-7df8-4a4b-aa38-c6de5a0c11f2 CLINVAR:55831 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efd1a43e-576b-445c-be8f-63413da4ccf5 CLINVAR:55831 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97a592a6-86a7-48a3-bc11-ce0068e566ee CLINVAR:133096 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bba2faa2-a899-4bce-a69b-d589569e9d32 CLINVAR:133096 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0447f02f-6499-4d4f-8416-bc9841391419 CLINVAR:102859 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe02e929-6582-4c6f-8e26-737f0057cc17 CLINVAR:102859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8646823f-8c30-41f6-b4cb-1baf9b059129 CLINVAR:102727 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 411fb282-e3e6-4d98-b00f-aa112ffe8206 CLINVAR:102727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 389d8781-ade9-4635-ac5f-95733899ff8b CLINVAR:664621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6de0e3a5-3d8f-470f-9dcd-4d09cfdd2a62 CLINVAR:664621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b141b6-dd31-4593-8f1e-0923bef97ab3 CLINVAR:102738 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a7ba130-261f-44a6-b871-71dc3dc7816c CLINVAR:102738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5db97523-c6f2-4099-b8c2-dd5fc13d8f9b CLINVAR:102878 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f4f5304-82cb-47d0-aa17-489354e1dc85 CLINVAR:102878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2184053-90d7-47b9-9679-d05e8cdc0594 CLINVAR:102890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 312c5aa1-c958-4a93-b6a9-44168984128e CLINVAR:102890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 866c0299-a8d4-487d-8f9d-e70e1ea7cce9 CLINVAR:102464 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84e12872-6b46-4e37-a0bc-ba8fe8c79dc6 CLINVAR:102464 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce1eef5-dfa7-4d17-98ab-08dd4ccb2dfd CLINVAR:102917 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66cf1557-ba64-4b81-8cbf-10a7611933b5 CLINVAR:102917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6178bc8b-f14d-42a9-884e-97605a4b9867 CLINVAR:282842 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fd829d0-6b1a-4d00-b7fe-3dc17f4caaf8 CLINVAR:282842 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6c83281-2eb7-4fc7-8c36-05fb2b7757b1 CLINVAR:93540 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e89b130-4952-46f3-aef3-de818c76f1da CLINVAR:93540 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f3428fe-b790-44f1-8b72-ea191021d0ad CAID:CA6748738 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca2babfe-62d1-4178-8a99-b38cf3d58a09 CAID:CA6748738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8309453-8095-47a5-aca7-9963221c56ec CLINVAR:2896 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5b55db0-7941-41e4-b911-7e16d1db1690 CLINVAR:2896 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d870dccd-b08d-47b6-b79f-f6ce140175cb CLINVAR:952997 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd815a51-13cf-404d-83ab-6f2beb6c26dd CLINVAR:952997 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70645fe4-d936-4242-9167-bc14ed151d86 CLINVAR:952995 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6dbabfba-877f-4ee3-92e9-a0cb789c5a1f CLINVAR:952995 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a305a4-fb7e-44aa-9818-485bc130eb1b CLINVAR:132709 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6621e744-34ad-4009-9e59-89c912463048 CLINVAR:132709 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb91328-6181-40a5-8bdc-949ad1c3845e CLINVAR:234571 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1c52341-3d63-43fd-9290-d135155d2cd5 CLINVAR:234571 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 551b16f8-7578-4be6-9605-eb414e11a2b0 CLINVAR:532474 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8c6ad5c-1a25-4d8d-9a9e-29349143018a CLINVAR:532474 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77887f78-0260-4411-829c-9f73fb6a08b5 CLINVAR:532457 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 103749ec-05aa-4ad3-9267-2d96ea4c2c03 CLINVAR:532457 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2c34615-be97-4bca-902b-f03f3fa901ad CLINVAR:486826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8bd5918-2c7a-4867-9fb0-364cedcc910e CLINVAR:486826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d39591d-49d2-4b3e-b806-d43bd2f797cf CLINVAR:463723 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63b63256-5856-48b3-b288-242dd9276c50 CLINVAR:463723 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ccb569-8c47-4bc7-b60c-2fce490f95e5 CLINVAR:481704 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65ad43f4-52b1-4656-938b-f7f856bccd66 CLINVAR:481704 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0e5e197-676d-40bc-b3ab-3d15b6e097ec CLINVAR:532459 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6a3f95d-8309-4bcf-931a-e6c7d946d0a1 CLINVAR:532459 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1d6a1e0-7696-468b-b7e9-5a51c7a284f8 CLINVAR:233417 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c55d7ac8-5638-43c0-b2a8-169c5a59213b CLINVAR:233417 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ff350d1-1d6b-4e1d-bbf0-cf2b31f065d2 CLINVAR:127915 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5439bf5-b3c4-4fbf-8c98-284ea424920d CLINVAR:127915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d92b85d3-8493-4f11-bcc2-35a364d4c4b9 CLINVAR:406622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc23f327-93ff-4ea3-a1e2-e1e1040d1fcd CLINVAR:406622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b381467-fd22-4f2d-9b7a-c60296677747 CLINVAR:651982 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec7f59c2-e290-4e8d-ba48-2b305b8753a1 CLINVAR:651982 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92678996-76cd-4e56-b970-36833217781a CLINVAR:428629 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0df517ef-6127-457c-b6b0-8539e21c8ca5 CLINVAR:428629 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc2d6f0d-09c8-4566-ac88-52c4f1f0a610 CLINVAR:371806 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62cd15f9-4ebb-49d9-80d6-1444ae038b76 CLINVAR:371806 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cc45de2-7573-452e-9329-4a5601a80cf8 CLINVAR:479514 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5bc1652-e39c-41dc-8fb8-a299b1750f52 CLINVAR:479514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a2f6e8-a994-4333-bde9-d3e2effbc8b2 CLINVAR:421639 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 090179e6-9859-4e1f-bf47-0e4a182cf03d CLINVAR:421639 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63e4eb0b-1b37-46f3-997f-e26cdc05ca29 CLINVAR:491520 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ede0c85-495c-430f-ac0f-62f0285d1060 CLINVAR:491520 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1b9f820-42ed-4f45-8ce3-3c97007b565c CLINVAR:481028 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86d2b81a-9794-4a27-a9aa-b9c609acc548 CLINVAR:481028 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac62ac82-17e8-41df-ac76-379ce5789952 CLINVAR:224529 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7949095-b912-4a65-894b-961edd1587d3 CLINVAR:224529 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f1b304b-0de6-4b4b-b611-b216c09985d2 CLINVAR:573147 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c14351fb-8988-4ac8-9b59-2f0f9e494d82 CLINVAR:573147 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14dbdfad-8961-41d0-9e95-f8f224a4635a CLINVAR:428634 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc18ae7d-0d79-421b-bbe5-e979b7975a5c CLINVAR:428634 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd6bf1a-bff9-447a-8be6-85c4913eac0b CLINVAR:463736 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0160397d-a158-4f5b-9aef-715ed2c7baa2 CLINVAR:463736 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 286b341c-b851-4055-b3ea-e5b1784aea1b CLINVAR:918853 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 781d024e-ce9b-4f2e-a623-7ff946534ba9 CLINVAR:918853 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d73b3f1-2123-4cf1-87c5-ec6b218d677c CLINVAR:234636 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69e979e0-9e0f-4507-8b46-dbc7a8307a57 CLINVAR:234636 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 514fa2bb-25ff-45cd-a147-f66450796d5e CLINVAR:483276 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dce4a8e0-a1c6-4e0c-843f-bb3a311746e5 CLINVAR:483276 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e8fccc8-ee3e-4f52-8fe4-91fd6fa76388 CLINVAR:207545 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 322c2b79-7edb-4d08-92fd-484373b9451a CLINVAR:207545 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 263893b8-1742-4338-89f5-726187424a15 CLINVAR:95378 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 867a4061-298a-4031-8641-2d5dd818b7ea CLINVAR:95378 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 234f3aee-31da-429a-b198-7fd2636a54f6 CLINVAR:167702 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff79a5ee-4815-4e2c-bcf4-bf70f705c2d3 CLINVAR:167702 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e07bce25-56ba-4a01-bf4a-b460a6d711b3 CLINVAR:95202 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3694dc76-a841-4026-8e7f-98e47e9f74c1 CLINVAR:95202 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d68b42ed-ac3f-41e9-a022-91652c2e5d5c CLINVAR:143406 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df6de4d7-cf5a-497e-829f-a059b772f5a1 CLINVAR:143406 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd35a875-476f-42c7-a6e8-bc9c75a8cd6c CLINVAR:158602 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cde01ac8-ad0f-4ac0-a797-3e1401f2ec82 CLINVAR:158602 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96e44717-b7e9-485f-92df-03644a8f5393 CLINVAR:383439 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9332c70a-2e9b-4330-815e-e8779542e884 CLINVAR:383439 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07cc66fb-fbf8-489f-ae0b-eaead37e6899 CLINVAR:189612 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74ae24d2-511d-431f-8ed8-2f384dc65ffe CLINVAR:189612 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0725887-101c-4faf-965b-58f9777878ff CLINVAR:156616 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf28fe15-dcdc-4608-a643-6d0436a792e0 CLINVAR:156616 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e317df80-29ba-4f6f-b8a0-76966e811130 CLINVAR:205485 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen add4accc-b191-497a-9ecd-ad6b36f2f792 CLINVAR:205485 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3203a54-3856-40d2-a50a-320714825b09 CLINVAR:158179 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4347ec75-bfa4-4a31-a775-f6f08b1f810f CLINVAR:158179 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed28ec9e-74f2-43a3-b45e-e0b61de80adc CLINVAR:7967 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a0b112f-ca24-4be6-83ca-861d8989d16e CLINVAR:7967 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714ec1c2-25df-4ff4-81d8-7c5c0f5f7576 CLINVAR:546267 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 478ca506-02a6-4274-a5c0-357f0090275c CLINVAR:546267 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7914689f-2710-4cfb-8341-a9b2d92e845a CLINVAR:214935 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccaf3f99-6099-4041-bedf-b113f44f595f CLINVAR:214935 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b330072-866b-4a8e-9034-cad22c1fc8e8 CLINVAR:10880 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecf29bfb-a5ec-437a-a916-4499491dfc2d CLINVAR:10880 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec564383-fb0c-45af-9d65-a4fb51b97409 CLINVAR:214941 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34720b0c-a3ce-4a15-92e6-e7a23e1fa2c3 CLINVAR:214941 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f76aebe8-f9ba-46de-a685-6299d0074d03 CLINVAR:655703 biolink:genetically_associated_with MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6977106b-2833-452e-9c0c-2332c89c70c9 CLINVAR:655703 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f8c5de-54de-40ea-99ed-dfc730945e19 CLINVAR:391039 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4201d2f-5b09-4ffd-926a-b6b6f822254e CLINVAR:391039 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 163dd36c-3728-401c-b517-c007ea65f830 CLINVAR:2317 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 603080e3-1498-41ce-b782-5d39a2e8f94d CLINVAR:2317 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d0ed0be-4491-4db4-9399-3e7587caa835 CLINVAR:129997 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14af586e-424a-4f5f-b45c-abb99380d4bc CLINVAR:129997 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 177acf25-5d3f-4a03-be46-5589b0f73deb CLINVAR:138764 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 964f8217-c88e-4dbe-90ff-8c4967b31f47 CLINVAR:138764 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 340e3cd2-fe1c-4222-a68d-c3a58c97948f CLINVAR:597808 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc150ba9-e95e-47a4-a114-cb53bb1877a7 CLINVAR:597808 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03d4f4af-7fef-4a11-99e9-71bb2b53ef7c CLINVAR:21315 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13567e58-3388-467d-a279-d384f4da648b CLINVAR:21315 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbc5792c-2d2f-43a2-8e86-da098fb3a023 CLINVAR:285869 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abcc8a00-e6e2-49ab-8811-efe1ef2421db CLINVAR:285869 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba1f7b3f-b306-4749-9c28-a4e0e990c22b CLINVAR:378418 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1579d51c-6d79-4c5f-909a-6a1378a2b5e3 CLINVAR:378418 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb6ab92a-5832-4089-a078-f916a2c4ab38 CLINVAR:885824 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45bdc9e9-537b-4e6c-af71-09b1a0c89881 CLINVAR:885824 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6902b7e7-9c1e-4045-8c46-7a2f89f180ac CLINVAR:886829 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a058eb4e-9c06-4c32-8db6-dfbc77a40887 CLINVAR:886829 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98c08662-0228-46a9-a5c3-7baa493e8857 CLINVAR:426681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b81bcc97-21ca-4ca6-8f28-49bb0ff481e0 CLINVAR:426681 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54cce73-e7a1-48b8-8549-2c46ddad0bc0 CLINVAR:619340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen deb38ad0-103a-427c-9b79-e1f1fcc3c989 CLINVAR:619340 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525ec195-d940-4ea1-9124-fffc27b70559 CLINVAR:317304 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9981991b-d71f-418a-9f36-03d788d92be3 CLINVAR:317304 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 668ff721-f980-45a7-a690-6c5f34c4528f CLINVAR:129995 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80784823-c663-4571-8a49-d9bfae9ce64c CLINVAR:129995 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c626f187-86a4-4c10-b559-7407df2bdced CLINVAR:206553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92652de1-db6c-42cf-b4c8-a0228cca8736 CLINVAR:206553 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df3a556d-f26c-48ca-a653-f7b820ddb9dd CLINVAR:504504 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08f2ec34-9a82-4d20-b521-d6f63d7d9300 CLINVAR:504504 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61cd084d-8875-4f26-9fe2-39d3ced979ad CLINVAR:620293 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84e3f442-7eb7-4199-8b7a-2c9fd8c2505c CLINVAR:620293 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3beab3c5-b46a-46fe-a49d-83e5dfea2635 CLINVAR:143822 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74e91399-bcd7-420e-b60e-d24bb796c263 CLINVAR:143822 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a113d7-1be5-45d8-aaad-9f6e20a26fc1 CLINVAR:195397 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8884323f-75a0-4c44-9733-0b541f32ba94 CLINVAR:195397 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54790141-d019-44ba-afc6-4d1e0d093ad4 CLINVAR:418572 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8beda79a-186a-4ac2-8b77-35034c279de2 CLINVAR:418572 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd03079-2ac0-4f62-98f0-ea8fcd740add CLINVAR:94113 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a257b42-5419-414e-8742-8201f9595b8b CLINVAR:94113 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46360596-19c5-4d1a-99e9-377c745520f4 CLINVAR:102891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db68ffaa-a25b-499e-8ea3-68b8ff4f3a94 CLINVAR:102891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af24b151-8cfc-412a-a0ea-dede5829f0b9 CAID:CA16020891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47339978-71c5-462a-b806-d2fe150b7274 CAID:CA16020891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5248753-3ded-4b19-ba45-94a1096ce8a3 CLINVAR:102466 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d89bfe9-e16d-42d6-bedf-d422ec464f33 CLINVAR:102466 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80198d6b-37e3-45bd-99b3-f292dbd33dc0 CLINVAR:102467 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9254177a-ccbc-40ad-ae44-4f8906b94cb9 CLINVAR:102467 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad85678-d6b2-4949-b939-c6eaadb75993 CLINVAR:102469 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ac6f628-b5bb-4f50-be5f-e98efa9bafe1 CLINVAR:102469 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc6fb3cd-d6b9-450a-8e75-0bd59dcee3f7 CLINVAR:102471 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 252f61f6-3d9a-411b-863e-0d51b4a0e5f0 CLINVAR:102471 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb25e76c-190f-4a27-b77a-54d284c25376 CLINVAR:102472 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58e9ca10-12ee-4311-a62f-4a996b602d97 CLINVAR:102472 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfc981f0-22b4-491b-99eb-85ac7429df92 CLINVAR:102512 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48f6c464-0537-402c-842b-fff07f845f72 CLINVAR:102512 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6113ba05-674a-4f55-b0aa-4ce95068e706 CLINVAR:102527 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a69c9c0-bf9d-4588-a703-f1f73b4127de CLINVAR:102527 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b817a03e-5f09-4f81-b6cf-07e4a7d578e8 CLINVAR:102665 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31e4316c-3976-48e9-938b-e461aefca07e CLINVAR:102665 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18556b55-7621-43d8-b10e-0f22946092bc CLINVAR:690393 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7316ee23-de3a-4444-9582-130664d7c1df CLINVAR:690393 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d808951-d453-4ca2-9501-91cd54c28d1f CLINVAR:434661 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a3fe8cc-5028-47dc-be47-a9e2e188b858 CLINVAR:434661 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f15c6cd-a2e9-4828-aeda-6d3ab99dff67 CLINVAR:434662 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f7e9cd6-ed70-4eab-9ab7-459a0468f048 CLINVAR:434662 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e4bee4-adb7-4852-bcd0-68f49d8b586c CLINVAR:133342 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c048d16-e67a-45a7-a5f5-c4112081970e CLINVAR:133342 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31c6cbb-c4f1-416e-9ef0-74b0debe4429 CLINVAR:143578 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1519fecf-3417-4469-8ad1-79c628b58727 CLINVAR:143578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5332e7cf-4ab6-4252-87b0-fbd2d25e30f1 CLINVAR:421239 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03245e22-abe3-4e24-8a40-2aaab30ca249 CLINVAR:421239 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c55f48f3-0ea0-4d11-bcd9-8a17daf0e0e7 CLINVAR:420601 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65747ac7-e064-4b86-970b-339b305ba1a8 CLINVAR:420601 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 080a0421-2a9f-4120-8e5d-a4cf10649a5a CLINVAR:524012 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 521f9b0a-3ec2-4e5f-9355-831f98d9fe39 CLINVAR:524012 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abc661ed-be07-4364-b0b6-fca04e35b6c8 CLINVAR:207239 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a8968a3-0715-41fb-9161-f936398d2ed5 CLINVAR:207239 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f401f28-2daf-487e-96ae-959f7f45d0c9 CAID:CA913189044 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16452f26-e8f3-4e5d-9f90-ffb13d48faca CAID:CA913189044 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7fab730-e717-4bd5-ac02-b10864285f4d CLINVAR:859603 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0683b9e9-3731-48f4-a5be-d4447758f59c CLINVAR:859603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48098c8c-2ab0-4cf0-bb00-f7684f711494 CLINVAR:429629 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51810e07-efe3-4173-9c09-658f8aea269a CLINVAR:429629 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ea26af-ffcf-4f47-8991-3e5b989f738b CLINVAR:11824 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1772ba6-ae5a-459b-8b56-75f4508981fe CLINVAR:11824 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d26607c8-158e-4925-95fc-8ed0e3194cb7 CLINVAR:11503 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb0492ea-3c55-4768-9941-7dd60162e0c3 CLINVAR:11503 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b13ef38-920e-4a22-96e4-598cadd310ea CLINVAR:503729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3d5a204-3b1c-4a74-98a0-76041e5db8e4 CLINVAR:503729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c14aa62-e018-4d66-a9b2-a9f3c6ca1cc9 CLINVAR:11819 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7a22c04-a103-4229-9571-a5818523e120 CLINVAR:11819 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe9c180-5131-4703-a453-9217ca691605 CLINVAR:7371 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce64e9e3-69de-4505-a72b-4d478504bedb CLINVAR:7371 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f068b25e-2af3-46b5-b107-1a81a6a2ea3f CLINVAR:212379 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b69537fd-1e40-44e3-b278-304e8f0adda9 CLINVAR:212379 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 069e3b06-1af3-4931-848f-f015f14133a4 CLINVAR:451937 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b27bf36-7dee-4dff-afae-d3aef93e15d8 CLINVAR:451937 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63776f03-b71b-4d64-bbe7-3325ed1d3b97 CLINVAR:160220 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1271f1be-a1cc-4088-ad90-ef331e57c86a CLINVAR:160220 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d1d2a5a-57dc-4d5a-8770-e5335f300d71 CLINVAR:393171 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7594beb5-cca1-4fc2-8b86-4ec426052939 CLINVAR:393171 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e9350eb-dfdd-45bd-88d3-df3102687bd2 CLINVAR:156620 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11e90a22-b081-4d02-a40b-2584b8ddc2e1 CLINVAR:156620 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb542b61-a378-4d76-ab7c-a32a49625b44 CLINVAR:432062 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e62e8290-a72f-433f-bd26-f011879c95be CLINVAR:432062 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c86b269d-8acb-4343-a2fe-822edaa38007 CLINVAR:11844 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bd4d105-c8f6-4be6-8498-741552134bd0 CLINVAR:11844 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 072e80fa-9320-4012-b20e-7a24e9a6feb6 CLINVAR:160092 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e04418c4-c267-4ec3-8656-3e90af7f694e CLINVAR:160092 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 016f1144-fad8-4759-b925-5e48f7306522 CLINVAR:155987 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 910024d0-5313-4cfe-87c4-fa96de54933a CLINVAR:155987 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb8f586-406e-45a4-92f0-384e4836b1dc CLINVAR:143826 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64ed18b7-56a6-4d0d-abb7-b6d80bc0aca1 CLINVAR:143826 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bcc93d3-d017-45eb-ad29-183a2f5e4651 CLINVAR:136199 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44659ad1-e3d0-4265-bd6c-5253463b5518 CLINVAR:136199 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db6ebb2-bcff-417a-bc64-de3efa702262 CLINVAR:143524 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c55470e8-df36-436f-ba85-e5b204a5dbcf CLINVAR:143524 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1e5d74c-7399-44a9-96a8-437fe2173e58 CLINVAR:155994 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8671f043-81f1-48f0-b6c7-aad26de0d9e0 CLINVAR:155994 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d7fdf8d-2a2c-4b81-83ba-b4f4ebf917c0 CLINVAR:918032 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8272d530-3e55-4cfa-8600-0a0e6db1e306 CLINVAR:918032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f041fbd4-c8cc-4e6f-afd0-c396ab6c9710 CLINVAR:189554 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abe2ab10-f382-4001-a049-ad6ca717a0d9 CLINVAR:189554 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb9b9dba-e9a7-49da-a13d-62e31e403c48 CLINVAR:93542 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0076b374-b135-4cdf-880f-8f1c9deab794 CLINVAR:93542 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2031c7a2-9c9b-4341-9beb-3b36130290b9 CLINVAR:95268 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f372074-a415-4bfa-9114-15c22177c582 CLINVAR:95268 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70cc3b3c-273c-4cf5-b150-9d8ab24b0667 CLINVAR:423029 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36a58ffa-dc79-49a2-8c13-de84793e3c61 CLINVAR:423029 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec24baeb-e8b7-47dd-95a0-d8a966fa89d8 CLINVAR:381549 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0d3891b-61b0-4023-92e4-bf95dba4da2c CLINVAR:381549 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1061facf-b162-461f-87e0-524e92e32851 CLINVAR:156068 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c2cb2ca-636b-479b-b8c5-02d279519d8a CLINVAR:156068 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e5ed79-d1ec-48e9-b472-7efdd565755f CLINVAR:7370 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9aa014b5-6f75-4e91-9b8d-55111800df2f CLINVAR:7370 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be476235-9d7d-4b4f-9f3b-f1abc29eac9b CLINVAR:11502 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dafff1c8-9efa-407e-8f5a-55f27230e51c CLINVAR:11502 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1efe455-580a-4889-8483-d1df12ffa7e8 CLINVAR:21318 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa46367e-6742-4c9f-911b-eefe69894120 CLINVAR:21318 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c38d2b84-0fd3-47b0-b462-aa2b03d91a70 CLINVAR:206556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdc5f24d-6df3-46ca-8b24-888210202c19 CLINVAR:206556 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e02d2cc-16d9-4734-b215-44061b85d300 CLINVAR:566733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6af13b27-e9c2-43a0-ac85-f8dbdd256ef2 CLINVAR:566733 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd5973e-d569-4657-b5dd-500d01c3c6e3 CLINVAR:133032 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 622a1fd3-d0e9-478b-a9df-c944d8a3d154 CLINVAR:133032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b60079c-cc74-48be-959c-71ad94e0a17b CLINVAR:133005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 139cf704-e50c-42c6-a94b-ee1d4d512ed2 CLINVAR:133005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f5de54c-d5e8-4923-bb3c-c45ed606cfc4 CLINVAR:133013 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23934a83-ac08-4f89-9cc0-9d175c390824 CLINVAR:133013 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148cc652-8590-4934-a32c-f665a4fe0829 CLINVAR:1029908 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a70c027-67db-4607-b5a6-fdd09d25302b CLINVAR:1029908 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a195a5a-e051-40fa-8c15-5a00ec720b8d CLINVAR:65956 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa946286-cd4d-4874-b636-f6cb320e998f CLINVAR:65956 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 616a94aa-c253-49c9-b02b-055eff63e410 CLINVAR:1120227 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 772caab8-e4c0-46c7-a4d7-6b78e09f2e0c CLINVAR:1120227 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93f1ca3f-5e6c-44f5-bbcc-bdd119a50b6c CLINVAR:933345 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5e9e62d-4670-4974-9d75-5f1ebcac2bb6 CLINVAR:933345 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f9c2af-6a58-4fcd-873b-4052474fdd43 CLINVAR:478157 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66e60708-0779-4450-b9cd-5fd1c01541e6 CLINVAR:478157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52726dbe-7574-4b2a-a6a0-e03462897f8a CLINVAR:133036 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eeac5aee-3355-4333-b09c-28e41aa3c1e2 CLINVAR:133036 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dc4058f-0f71-499f-93d3-ea736946a228 CLINVAR:1019540 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e08e3b22-efe2-4058-a2a9-362accd7560f CLINVAR:1019540 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bad27279-779f-4195-9542-7b46e13a8ae6 CLINVAR:132988 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a98a1cd-16a4-44f0-89fb-24d9dc6fb4b8 CLINVAR:132988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9f2e54e-b146-4a5c-98fc-def207fc60b4 CLINVAR:133033 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f012b43d-a944-476c-ae67-f1e957350ec2 CLINVAR:133033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c31587-e8c2-441f-b299-ee495e9b9080 CLINVAR:1120229 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efd8c9f4-4b13-4c91-b543-82d44af56a0e CLINVAR:1120229 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db2d342d-b705-4607-8e84-a2e6521dba41 CLINVAR:133025 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d98c34f8-1adb-41d8-b02d-d4771eb6c1ed CLINVAR:133025 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67937373-d96e-4bb8-9b96-6d8aafb183cb CLINVAR:1120230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 579f107e-03f4-4fb8-b42f-95d0a371f833 CLINVAR:1120230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a582b3f-e9c4-4138-b21d-87de3f2b06e5 CLINVAR:133040 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 636af1e8-4b53-432f-8df2-2f5afb6a12eb CLINVAR:133040 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd6bac87-657d-40ee-aed8-a0f47a6ccff8 CAID:CA16020940 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c02e1492-457b-42c9-8c0f-7a9bd6bcb2ae CAID:CA16020940 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d34fff-3b82-46bc-913a-f6870ad87367 CLINVAR:639999 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f619df18-f0fb-42bf-bb25-5163b1bd51ee CLINVAR:639999 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c361a1-d4b9-4d9c-a571-a5df9b8e0fa1 CLINVAR:161377 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b012e6ce-eb10-4e28-8937-a305096c98c7 CLINVAR:161377 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38cf5da6-1983-475f-b6ee-306985cfa1cc CLINVAR:102582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7c89786-cc5c-4c44-ac85-e5572c79f912 CLINVAR:102582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20ee8ab5-0fad-4fc2-807a-51795dfac037 CLINVAR:102554 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ecbe8f1-4fde-4769-88d6-75c50ee75659 CLINVAR:102554 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7ea7fc-b2df-4675-af9f-7e85f0fa6c88 CLINVAR:133042 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e982ff98-e024-44d7-a214-15630589fabc CLINVAR:133042 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a1a5e5-effb-4a44-b926-af3f1e3a229f CLINVAR:590447 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15e3b647-feb4-4de7-b21f-f8d78b69aef6 CLINVAR:590447 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b30dfb3-04ec-4777-9d8d-96412dc08f9d CLINVAR:478199 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 301c1c73-393b-47db-a76b-aaabe9909365 CLINVAR:478199 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f564553-3b04-4cdd-9c13-182bdf6147ac CLINVAR:65941 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d9387bd-65ac-4190-af3b-4fd39ba71f92 CLINVAR:65941 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c8d516e-af35-4127-b54c-57a8c070237c CLINVAR:133055 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61e48e91-f089-4689-a865-fbd61e31f1d2 CLINVAR:133055 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19cdddea-43a4-4a54-add4-484f380f2501 CLINVAR:285857 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa07caa1-a905-46c9-a7d8-82ffb535ecd6 CLINVAR:285857 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06286723-6ada-4b9c-9a5e-52bd96bee2fa CLINVAR:133053 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 484113de-9dd3-49bb-af1a-efa7a0315771 CLINVAR:133053 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ddbb02a-42dc-438e-b27d-5ae001d2075a CLINVAR:133056 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee380a94-3897-443f-8eab-efd552d15f30 CLINVAR:133056 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5402e3c4-cc2c-401f-9076-16852c0bce97 CLINVAR:654427 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07ac5825-5e9c-449f-bb68-dbf03c6cd8c3 CLINVAR:654427 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4304fe5-bc18-4489-8d7e-5c7aa366520c CLINVAR:478187 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf401c11-ab98-4457-a8b5-fdd22b807153 CLINVAR:478187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431626d5-9c1e-45fa-8588-76830d534fdf CLINVAR:590453 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb6523eb-b16d-401b-8eb3-9d356adc715b CLINVAR:590453 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 309cdfb8-52aa-4df4-9732-d8e469424eb0 CLINVAR:133038 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0b179a1-dd8e-4088-9477-eb8b4e9f5a2f CLINVAR:133038 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f94bf2ae-60e3-44ad-b00a-0ab6cd693ab7 CLINVAR:133057 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4746da30-acde-4b58-8b30-44aa82c57985 CLINVAR:133057 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf28845e-e403-4c4f-9698-1a508eeee1a2 CLINVAR:133068 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9f2474b-63c9-45ea-98ab-bbfc093d58a3 CLINVAR:133068 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e36bc6ca-da76-492c-984e-d07b21e01ec0 CLINVAR:590405 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c95c5f6a-d663-44d0-9d0f-009f8b09c691 CLINVAR:590405 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bfc6539-07a0-40eb-8cda-b8feb131e8a7 CLINVAR:590413 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2e96622-6393-4acb-8e7e-e54bf30d2b91 CLINVAR:590413 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9884e17e-23b6-468b-b554-0b204e398c3b CLINVAR:1120228 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1889b26-233d-4c2d-a7f7-b45a703726df CLINVAR:1120228 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b87badc-b89f-4423-b5f6-c3b1358551af CLINVAR:133060 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd9a7458-a597-40e9-807e-f2973f0ff4ec CLINVAR:133060 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b3e8b2a-407a-4503-b63b-31898b283600 CLINVAR:102754 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2220443e-c8f6-4886-b3e4-2e76780209ca CLINVAR:102754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fa45062-0162-4678-aae5-35cb1f00e80a CLINVAR:605 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d46eb25f-9ca0-4edd-a495-e5a2b5f37316 CLINVAR:605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02374998-501b-4c64-a238-a01fbf9a0b52 CLINVAR:102808 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f76ccadb-49f6-45cc-8b93-ab207b8512ba CLINVAR:102808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e190c6a-26f9-4223-9c5c-24cc259e538a CLINVAR:102780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5712590-53f7-426d-ba7c-f5a761847834 CLINVAR:102780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e43a9aca-892f-499e-9871-0daebf2a77c7 CLINVAR:102496 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen faaa529b-ecf9-4363-9557-6e90a36fc72b CLINVAR:102496 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93ad442b-2e96-4bc5-8ad2-581e27c09b68 CLINVAR:102484 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3309929d-08b8-43ba-9a3b-b1c0e12469a7 CLINVAR:102484 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7baec277-9d3e-4271-b0af-c4a7b39619b9 CLINVAR:102494 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b0dc87e-2b6e-4632-8337-2aeac997d91f CLINVAR:102494 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fc7b3d2-5db5-41a3-8b0e-f51e259cde34 CLINVAR:102562 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cff86e2f-401f-4651-bda8-427a23709044 CLINVAR:102562 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1d0d1be-e9b3-430b-81cb-82adf6284e93 CLINVAR:102580 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 136aa8bc-e3b9-4378-a2b6-08dec7d500fd CLINVAR:102580 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d3159bc-738d-4f4d-8796-88d04ab47b12 CLINVAR:102481 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56b978d7-576a-4c09-be64-e87fd8fac6cc CLINVAR:102481 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa48c63-066d-4a65-b767-a4fe8928f44d CLINVAR:102479 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 051f4711-6ea1-48dd-a9b4-19b198258d28 CLINVAR:102479 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4284125c-c14f-458d-98a5-55c822d7897a CLINVAR:102480 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27ef768c-2292-47b3-b89b-78c51dfcb196 CLINVAR:102480 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab2e4151-0edb-49bb-a1e3-dcbee26f079e CLINVAR:102482 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eed5c542-050e-4c5e-bb03-f2bcfb2250b0 CLINVAR:102482 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2de0da2e-457a-4a19-a93c-85aea8fd07ed CLINVAR:102755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14e65db6-f7a3-47a6-a3ae-4b6a05848e67 CLINVAR:102755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31917938-aa62-4f9e-b620-753ef53365ea CLINVAR:181207 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d1c4596-66cf-4fdd-b9d7-5003e54d8ba0 CLINVAR:181207 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 187a2d06-3e97-41bc-900c-8709cabafecf CLINVAR:181282 biolink:genetically_associated_with MONDO:0008409 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d888e6fc-57ad-48dc-beb4-de3e377fd2cc CLINVAR:181282 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c4e44fc-4f49-4d8b-95d9-d0c9c8494ddb CLINVAR:42999 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cef6974e-8817-4ac5-a317-921ce6c005ec CLINVAR:42999 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f5abb5-fa5a-4f7b-93fa-5ddd924a7d65 CLINVAR:181285 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 258ebdd8-2df3-484a-8a62-bd39675731c3 CLINVAR:181285 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db91ecb1-619f-4026-9343-48dc179bb1ad CLINVAR:14094 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11b2966d-6451-4185-910a-2aeb4e5c9367 CLINVAR:14094 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e3967a5-8be3-421e-b911-63fd5f3d485d CLINVAR:14113 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebcd9c0c-664e-420e-9667-278ffbbac951 CLINVAR:14113 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab229cb-9812-4e16-af4e-baa21708e348 CLINVAR:14118 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8c0db2e-4e0e-481a-9fb8-34f058043f96 CLINVAR:14118 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c32b46-5fb8-46ba-98be-6f7439396ac6 CLINVAR:14126 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e32b4d11-0f57-4a96-a9df-025aef49f1fd CLINVAR:14126 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4ba3f77-aa1f-4ed0-a804-4df12b60d395 CLINVAR:14129 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1999f4b9-fc20-43df-81a0-4e70fd968d87 CLINVAR:14129 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bb71bad-2812-4704-bfd4-6f4e7098c329 CLINVAR:418517 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bc684a9-4755-4db2-bbed-407d3ea00611 CLINVAR:418517 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8d3131-ac89-444f-a914-9174f56f1a35 CLINVAR:185814 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e09a9d2f-bcd3-4a19-b3fb-5f6aef7c3d76 CLINVAR:185814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4ea2f98-4da7-4aa0-a0eb-9743b54f3082 CLINVAR:656751 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c37bc731-b5d9-445b-8195-fb3ab6b93fc2 CLINVAR:656751 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dcdf642-1b71-4e3f-92c9-b455350a592e CLINVAR:186587 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba37348a-4c07-4ccd-b7b1-a54d98d26379 CLINVAR:186587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64c02fef-5782-4eed-b7a2-cd41286519bf CLINVAR:142714 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 325ac858-438c-4d86-b76e-0ed85b350a94 CLINVAR:142714 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5358605f-02d0-492f-af8e-0c11b3487082 CLINVAR:218342 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbe357a8-0a99-434c-879e-bcc7be9fe3aa CLINVAR:218342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c0deb5-e95a-4230-9741-09f4b996361b CLINVAR:1172924 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41993fe6-b157-411a-a349-307dec1ed224 CLINVAR:1172924 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7b273a9-2db3-40aa-849c-4718baa7f221 CLINVAR:1019612 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43f3367c-3f3e-4738-a2a9-bdc4be04f653 CLINVAR:1019612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed3d276f-5bf8-42c3-a2c7-dc525762d6ec CLINVAR:182933 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebb9dd34-06e0-43a0-95bb-93f48f6cc315 CLINVAR:182933 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45666dba-c952-440f-b5be-e8619ccf30f7 CLINVAR:182938 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12ce7b0a-a78d-42c3-9774-747444c99048 CLINVAR:182938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09b04ff5-01c7-49c0-a5e6-01ddd50601d3 CLINVAR:182953 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 697bde22-19c9-482d-a350-2220c527d6df CLINVAR:182953 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9db68b-677f-4860-b83e-839c90651a19 CLINVAR:188342 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf700770-a8ab-414f-9a79-2f41cce46f12 CLINVAR:188342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57c51e1-9eaf-4ac6-a63d-7952ecb5992b CLINVAR:413774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f53c011-46ab-4a43-9590-7b2cb6fb8c51 CLINVAR:413774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df9faea8-a875-4d9b-b433-9a2e9ef91f91 CLINVAR:161273 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fb980cf-b76e-464b-bc7b-b8730c72b6d8 CLINVAR:161273 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf848fe7-66d5-4b3f-9314-bdb617655422 CLINVAR:375775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c1e621e-ccf9-4096-9e93-a678eaef20ea CLINVAR:375775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ed5a0f-f07c-442d-9335-96a289fe8850 CLINVAR:252350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d66a846-d524-4b6d-9a0b-e4a38bc94fff CLINVAR:252350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7757950a-056b-41a2-bd10-00a8ef194284 CLINVAR:3734 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f880cf0-d13f-4d9a-a282-c89e86e5f2f8 CLINVAR:3734 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e45e53ad-f7af-4882-a2b1-505ac9cf070a CLINVAR:36462 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0568459-e348-432a-ab6d-185c4e5ed3b1 CLINVAR:36462 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 762eff0e-684e-48b9-bacc-9d5ab84959ac CLINVAR:252304 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 009f9cdb-2642-4090-8c3b-347512890d22 CLINVAR:252304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb206b1-b91d-4760-a8e7-77a525fcb694 CLINVAR:3744 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22ae2c88-c7ae-413e-af30-b8a9b169f52a CLINVAR:3744 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9234a7aa-fb3f-4bdb-a87a-fb2849d543e5 CLINVAR:183130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bc340ca-10ff-4909-8b6c-caa8865fc01b CLINVAR:183130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9a810fb-e85b-4863-8741-3b843ed86d77 CLINVAR:252219 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14e04c65-0628-4860-a861-a73ab4ffc930 CLINVAR:252219 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebf9b617-a775-4357-b48f-2b5ccb341619 CLINVAR:252188 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9810a47e-fca0-484a-afcd-ce42aa9b8946 CLINVAR:252188 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e3c5a76-681a-453d-ba9a-63ac623c82ee CLINVAR:3689 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cc4f208-48f0-4e5b-a02c-561f627b1696 CLINVAR:3689 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62dd17ec-df56-422d-89c9-17f6a7b11dd5 CLINVAR:252136 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4dc3552-cb4c-4095-b9f6-75592e52e95b CLINVAR:252136 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4ba5627-376c-4821-bc77-12a928b7cc20 CLINVAR:252135 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b330dbb-4d3f-49cd-82c3-6ef51e27a9e1 CLINVAR:252135 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac3c416-8b9b-49ea-aa33-5721952cb8b7 CLINVAR:252083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 943c2f5a-6f23-43a6-af82-c9c22b6915c2 CLINVAR:252083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a670b3d7-9d49-434d-b333-7a9d917bb5dc CLINVAR:161264 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 539e3c96-ec56-495a-9022-2ebdd00869ef CLINVAR:161264 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32090fc5-9f4c-41f4-a77a-9e7d205b812f CLINVAR:161290 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c066ac6-1762-4f74-9e4c-835371eb8942 CLINVAR:161290 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5894d650-772b-4855-95c1-71b113682eb3 CLINVAR:161271 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0486070-2a85-4b63-876d-594ebc409ffb CLINVAR:161271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe859f90-91a0-4c40-915d-a15bd7f79af3 CLINVAR:183120 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4e89552-8d85-4f7b-b064-bc0892c13e50 CLINVAR:183120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04d0ac13-849d-45c7-a6bc-febfee4ee8a7 CLINVAR:251783 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 172c4be3-e578-4af9-87e0-377f9cf1955a CLINVAR:251783 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e3751c9-f711-4811-939e-738b755fe88c CLINVAR:161276 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3eaf24d9-b9e3-42f6-8030-5252fa6b9f49 CLINVAR:161276 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccdec647-9265-4dc2-99f8-4b96bbeb5d82 CLINVAR:36453 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 066d3ede-0a99-4d85-9d66-cfc994275afa CLINVAR:36453 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2bfade9-1aff-4438-ba68-759d880af50d CLINVAR:228798 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0ec9db7-745b-45fc-95d5-4de93c784d25 CLINVAR:228798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ccfa63-6b13-4d8a-a1cd-292ad8a986bb CLINVAR:3746 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0a7243d-e848-4ec5-afe5-de28d3d1cc06 CLINVAR:3746 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a34340-0eb3-42dc-81b9-aea5fa4f34be CLINVAR:251706 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95a54574-b3be-4884-a685-70435bf6a1d5 CLINVAR:251706 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8657378-97cd-43f8-be73-bd644e55744f CLINVAR:36450 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 890aa7b1-b93f-41bf-a311-495de867229e CLINVAR:36450 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c829249-3db8-4724-a656-c77a142279cf CLINVAR:161282 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cedb3c0-6bfe-4b7e-acec-da91536439cb CLINVAR:161282 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab4ff37-c80c-4e98-995b-bb34c8113d4e CLINVAR:251517 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1440a4a8-4a28-4361-86ee-f527c88e37c3 CLINVAR:251517 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a8ebcc2-1570-4e66-bbca-ed879a4a0202 CLINVAR:161281 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca1611f2-316d-41e3-b585-e33484d2e11f CLINVAR:161281 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4476629c-248a-41b8-a417-df781914cccc CLINVAR:251603 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e42cf47-d14c-4a68-9d9c-c8a2c7240ce8 CLINVAR:251603 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe5941d1-c581-4876-ad8f-1279a3fdc7c6 CLINVAR:161268 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8f3f062-790a-4ce5-8fce-ad8c9f2af2fd CLINVAR:161268 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 550413b5-56cd-4b5b-add6-f4c92c07c06d CLINVAR:251106 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de345f0f-7ad7-4780-b37d-7c97f5598e9d CLINVAR:251106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7311a311-5c95-43a9-a488-b8abb769e6d5 CLINVAR:161287 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 124056a3-54eb-4a36-9767-599a745834ee CLINVAR:161287 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7f94eec-82af-4d67-b3bc-95aeeee2687a CLINVAR:161261 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f1c3a73-3a15-49f9-8d4e-e6383f8c0bf8 CLINVAR:161261 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6ff0cfe-cee6-458f-ad71-4e5907b04f61 CLINVAR:251422 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fcf2cb8-979f-441c-94c2-1003843a8957 CLINVAR:251422 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15239917-4972-4b73-9d16-a306c69f6b9b CLINVAR:251400 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d01a4278-cc92-4650-97c2-bbfdc3dcb020 CLINVAR:251400 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f20990a-7292-4f1c-85ae-0a79ebd671ee CLINVAR:225402 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5810b47f-8a44-439c-9ade-b765ca5cc9b2 CLINVAR:225402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0cce002-7b88-4602-91ee-5df391a93a88 CLINVAR:251162 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90753548-1830-4d62-bae2-bff38f9fff1a CLINVAR:251162 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e94e50b2-81b8-47d7-b9aa-8a8d2b36de36 CLINVAR:3736 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5460ae4-02f1-493a-a678-52d2c035c12f CLINVAR:3736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18b9ae7c-9a51-44d8-8ee1-8c58824212e8 CLINVAR:161269 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81643f10-58b6-4dca-8978-a7d31502e6fc CLINVAR:161269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 494a3c52-6787-450f-8fae-80b5f7b307a7 CLINVAR:251100 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ccedcba-6d07-4bc4-8420-bc26549ca1e5 CLINVAR:251100 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a44142b-ab64-491e-8d31-407e41a4c10e CLINVAR:3685 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96655f3e-b8d1-414c-922b-56534f64d9bf CLINVAR:3685 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901bc194-252c-4ccd-8a4c-c6962cdbdce2 CLINVAR:161289 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9722af0b-63c5-43a1-af76-d7cdccb47796 CLINVAR:161289 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c074ec4-4a63-4aa7-bf70-c656d6524a26 CLINVAR:251034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f152ed5-57e2-40f1-891d-253f9131f290 CLINVAR:251034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80c49a3e-2a0d-4669-b4a8-410760032b58 CLINVAR:250968 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a57fd9e-5e43-4be5-a008-6ce3aab33405 CLINVAR:250968 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3953cb2-013f-4e20-883b-e791b8008c6d CLINVAR:102610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc8b4319-cffc-4fce-a766-91f9bb9cc077 CLINVAR:102610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 514ee11c-38c5-44f2-abfe-e099ba257b51 CLINVAR:102627 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f3d4ea5-4049-4203-95ce-dd43485e98d7 CLINVAR:102627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ee8a44-522e-43d0-876f-e652ea9ac25f CLINVAR:102766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55ad7abd-3bd7-4ab0-8f87-bdf4b6dc9a35 CLINVAR:102766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ef21e1-f1a7-4746-a983-8b3b4b7e7a5d CLINVAR:102488 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0cc8ac6-fb22-460d-af19-05ca723585a1 CLINVAR:102488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ff5f79f-2912-409e-ae59-5ecc43991356 CLINVAR:102521 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40414457-9ff0-4030-8575-de23d9de740a CLINVAR:102521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e5c2ed5-1932-40e1-a504-762584eafa4d CAID:CA16020794 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 155a5791-d782-4681-b5e4-489fd8d029ce CAID:CA16020794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17e3fc4a-6bde-489c-b649-49ff15d63108 CLINVAR:102600 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7ad800d-c464-4961-9232-77b4c9463e0f CLINVAR:102600 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa797be-1716-4749-b6f0-678a1211d039 CAID:CA16020963 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac4abe61-efa9-46e1-9fe1-285be4343b5b CAID:CA16020963 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da94ced-9e9d-4e39-b22d-c79619cbfa2b CLINVAR:556817 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1952c65-42c3-48e8-8c97-645958abfe69 CLINVAR:556817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3669c077-a4ba-43a4-aa9e-f78e8c249750 CLINVAR:14121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0aa6c229-cc35-40af-ad6c-ca405feb7c7d CLINVAR:14121 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc23ff05-a86c-4444-9dec-ccd56288dfc4 CLINVAR:214322 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ae08374-1329-431f-ad03-698976affd57 CLINVAR:214322 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113a89f6-cdfe-4ac9-93bb-5f5ead62b640 CLINVAR:496427 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34d91026-b1dd-45b8-8a51-7be438d13235 CLINVAR:496427 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b3ec8d-6e8d-4913-82a6-2fe71efce085 CLINVAR:504502 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c57eeb50-4633-4eb3-8671-1b61f56e82fc CLINVAR:504502 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ed2876-cab2-484d-84d9-363eb23e12e9 CLINVAR:1210168 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e9e19ef-8c25-41b4-b7a8-cb6cbf1e0789 CLINVAR:1210168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e927d76-5a6e-4354-bde7-f7e8c06f837a CAID:CA772541579 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa36ee70-7580-4ae1-99fa-2b398f543e01 CAID:CA772541579 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f122a90-fd4b-4518-a957-8999f1ef0783 CAID:CA290954030 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c227f555-66be-41d0-953c-07d2a3a15c1f CAID:CA290954030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 763abe00-9e31-40b0-ac3d-fb9a9c391598 CLINVAR:627288 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fffae6b-c673-46ef-b153-906b27afc57d CLINVAR:627288 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be9d80f2-d964-446e-8ff3-21f2adb0af79 CLINVAR:13568 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a696eb5-d972-48bd-a55d-924936127534 CLINVAR:13568 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ec0c99-c898-44c5-9fee-613f528a8afd CLINVAR:1210185 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88e19ce7-5e67-477b-b12d-bf2069144275 CLINVAR:1210185 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce1d1be-a3a9-4618-89b8-742ea603eca1 CLINVAR:695644 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec729120-cd24-4b09-a230-1886e5707e90 CLINVAR:695644 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2df03e7-0bde-4a21-81fe-6c8a46828d26 CLINVAR:13569 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68c13814-e835-421b-b62e-267afcb98b5c CLINVAR:13569 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c218cdf7-0974-4a48-8d89-850a09f98c18 CLINVAR:1210201 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ad35f1b-322c-4df8-acc8-eb26bec2aa9c CLINVAR:1210201 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6b46911-bdfa-414a-96e8-cf5c4dec5e78 CLINVAR:627052 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34630e17-0fb3-4603-a9e0-dadf487ed752 CLINVAR:627052 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2603717-5e5c-408a-984d-b1109167abd1 CLINVAR:1210202 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7824b2c-7ce2-485f-91ca-726020d8660e CLINVAR:1210202 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bc10b98-2ebc-49b2-ac91-edb6a72e79b1 CLINVAR:977130 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0d5a420-1b4f-4901-bab7-353409d53a8a CLINVAR:977130 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e30d434c-86d9-49cc-9e00-a490d6255d0e CLINVAR:13555 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 442354aa-a684-4ce8-8ace-249f257d9cb4 CLINVAR:13555 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4454aa9-1d0b-4b9f-a860-e4c468f39346 CLINVAR:13553 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8b66856-acd7-4f92-83a9-343255597127 CLINVAR:13553 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0b90dfe-68d0-4049-bcf9-fded1ca161ff CLINVAR:1210203 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bcb0688-1780-4162-9894-4aeb5344a787 CLINVAR:1210203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 807ebe38-23ea-48f1-951a-61e73ccf51ee CLINVAR:977129 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff2943de-a383-4e34-931d-7b124ea31c13 CLINVAR:977129 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a8e01d-38fc-4273-94a6-25300d40734a CLINVAR:323865 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b8a2ef6-8b97-4bf0-b509-1dcae88de67c CLINVAR:323865 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ca02f5-4ac8-4d93-beb6-e8ed4a18a05f CLINVAR:1210206 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c9742f4-480b-4114-9b3f-66aa99440dae CLINVAR:1210206 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 580b20c7-a0d8-4f54-898f-345869a096d6 CLINVAR:556718 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a52a3a8f-9464-4b3d-8b14-bc556ec43282 CLINVAR:556718 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4327f4b7-f0c1-4149-ae8e-4b4fc5abad7e CAID:CA915940722 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59197d05-7fbd-4975-a3e5-1aa1009abc90 CAID:CA915940722 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9392621e-1c6d-4935-af51-9fd0e1f6a2d7 CLINVAR:1210169 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea356911-fd1b-4ee9-aaa5-0d59959cf894 CLINVAR:1210169 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab4ce72-7a86-4a2a-b8e5-2859f1bdf7bf CAID:CA400023704 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 733fdb77-626a-4ccd-b345-f6348fc75647 CAID:CA400023704 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae199a84-f4fa-4f70-9aff-effeaaa17d49 CLINVAR:1210171 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a76b7765-d724-4b20-89c0-2ad210c725ae CLINVAR:1210171 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6265c3d-820c-4751-9cc8-37ef078ba8ea CLINVAR:1210172 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91ccc39b-ed19-4a31-b15e-3f0aca8d0d39 CLINVAR:1210172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68342ca4-0db7-485e-ae44-4f3e470b1278 CLINVAR:1210173 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc9ee60a-33f1-4c5f-9bdc-e278aa717c85 CLINVAR:1210173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c7a7a75-4c4e-4359-aa44-0adf3eea6d17 CLINVAR:1210174 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc81706f-c0cf-4c3b-8f72-8c75311e0af9 CLINVAR:1210174 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f437eb2-d08a-4e28-88e5-13010c6778cd CLINVAR:1210175 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bafabb99-2951-48c6-9480-391e73d88f8f CLINVAR:1210175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75c12dc1-a71b-48cc-973f-ed9fc86185a4 CLINVAR:1210176 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ab2295f-8cf4-4d1f-8199-917017816974 CLINVAR:1210176 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 881c0e06-7c7a-4643-baf7-f7d5cd682c41 CLINVAR:1210186 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9f90b20-c472-4c8b-bb1b-7a6347b1e27c CLINVAR:1210186 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8200b801-1513-4388-9a55-0f38a1fb7da6 CAID:CA915940376 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 521bdc6f-e5eb-4ee5-90e9-881ee51dfe37 CAID:CA915940376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3450c9b-351e-4e66-be99-cc1efe3f2a4d CAID:CA915940375 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9d5cc5a-c908-4a74-a3ac-4de59de670c5 CAID:CA915940375 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87fdf4dc-c0ee-4eb8-a109-b8ea218c8893 CLINVAR:1210188 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 356edd06-57b9-4205-b47c-33d9cc29942f CLINVAR:1210188 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e1db4fb-f5a9-4c30-a653-d2880019ae54 CAID:CA915940723 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46d6cde1-1020-45de-aae5-dc328a343dbc CAID:CA915940723 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154c5ab7-6d16-43ac-b7bf-bbe0e3ccafe5 CAID:CA915940724 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 198c6509-bb16-4e28-bfe1-6ae7bb6a8f45 CAID:CA915940724 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dace930-d963-4f31-a57b-4612fcd6d1d8 CLINVAR:1210191 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ead0764f-92b4-43d2-a78f-dc2e2ff08940 CLINVAR:1210191 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2adafe7a-da29-44a5-a454-901a9df10a1b CLINVAR:1210192 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9afa5d53-8881-44ff-90e5-ffa3060f6af9 CLINVAR:1210192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45ed570f-634a-465f-a148-9fc01d807690 CLINVAR:627239 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84a6562f-3f2f-4227-abb8-7379a3f78932 CLINVAR:627239 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc8dccf6-f8ce-43ca-a2ac-68dd0875831a CLINVAR:2902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 865beddf-749f-487d-ac55-a13e3ac3109d CLINVAR:2902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee2e92b-daf9-44d3-bfae-2f928d24d846 CLINVAR:631773 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f0ed7e3-4d29-4a9b-b819-7cf8f1fb26c9 CLINVAR:631773 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13abc48c-3f21-4b65-8add-bbc4fdbcd9e7 CLINVAR:977127 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c093069b-5de9-4e47-bcb8-8f2d7b7f072c CLINVAR:977127 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c78611-184f-4ac5-bae2-51e0e1fe0512 CLINVAR:971253 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d884a3e-eafd-4340-8067-e8437a2afc7f CLINVAR:971253 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d26cc880-b8cf-4cd5-94a4-2b349324cb23 CLINVAR:627292 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16aa9012-55a2-4db2-a0d6-70b48e623f45 CLINVAR:627292 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3049c5ed-72c3-4ddf-a998-6bd02a7e5e20 CLINVAR:1210204 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edcb7a2a-d4f4-4ad7-8215-c75b3d21c93e CLINVAR:1210204 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52afd11e-a45b-4855-8f91-4f988d511907 CAID:CA399803781 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a93a8d77-40c7-4220-b07e-c8f48864dbad CAID:CA399803781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8bf4b46-12f6-45e1-8dd2-869409ea612d CLINVAR:458368 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7450327-b220-41c1-82ae-9aaf9ea73da4 CLINVAR:458368 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02279731-5499-43b5-b855-eb4705c8f8f0 CLINVAR:627093 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43ddc5fc-379d-485e-8f30-262ce229ffc5 CLINVAR:627093 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 217803c5-1aef-4a60-bb9e-4e2442984010 CLINVAR:977128 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0563855-c4f8-4021-93f1-1b638cc3a4ed CLINVAR:977128 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afb59287-20a2-4118-867e-1e220f281fa7 CLINVAR:2889 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11cd15fd-33bf-4cd7-9e0c-53a5d5e915cd CLINVAR:2889 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4774682-eaa0-4da5-9f32-64ad8e00de7a CAID:CA400033218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a744caf-061b-494e-beea-330014f2fecb CAID:CA400033218 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c99ccc2-1be5-4be8-8062-bcbaa9d238d8 CLINVAR:1210209 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12c77a32-8fce-4d1b-a817-7e3c374f6bf5 CLINVAR:1210209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 171544e0-d038-4554-97b1-5c1c4e4855eb CAID:CA291224645 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f13fb853-79c1-46df-8a3e-7e0e895b6b1f CAID:CA291224645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900ff306-f10d-4886-9855-71ec0cf2a2db CAID:CA400023604 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15af5137-a49c-4ccc-8188-481d5372ac0d CAID:CA400023604 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda6366d-1aec-4379-a314-9a84448fdcc9 CLINVAR:800945 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 833f7da4-1c9d-492e-a19a-2abd8a9e1771 CLINVAR:800945 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdee7ae7-d7c0-4c45-90fa-66cb20efe371 CAID:CA915940593 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ab69c5d-87a2-475e-a338-22030e82a5bb CAID:CA915940593 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03763dd2-c434-4750-b335-883177e46f17 CAID:CA290947484 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05e058f3-9761-4af5-809e-41055ba0ecd4 CAID:CA290947484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33b44567-1a82-47a9-8cce-47f77faa5f1f CLINVAR:1210180 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 772be025-c81d-4407-8b1b-af7e207296cb CLINVAR:1210180 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3f3229-748c-47ba-9362-db24a6d3fa32 CLINVAR:1210181 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98af6961-259a-4b58-93fb-b4bfd698adea CLINVAR:1210181 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 509bb0a6-e00b-4cf1-b81a-ee8c1417be7e CLINVAR:1210182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bbc6516-1865-44b4-883e-0d05131d0032 CLINVAR:1210182 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c26d6b7d-e977-457b-a154-7ca465204f33 CLINVAR:1210193 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 737b1f27-f5d4-4b2c-bf08-66f95d6adb50 CLINVAR:1210193 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e32c5b9-1178-4b98-9b03-ab1f1f6f00e6 CLINVAR:952998 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc2d0d4d-6b81-47ed-900c-4953a62772cf CLINVAR:952998 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a0387f-fdde-4bdb-9975-f92382e7ad03 CLINVAR:953028 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce21480e-f035-4a17-9d55-fe19025af832 CLINVAR:953028 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c58c9ea-9b77-4b48-8626-5015d6786ea3 CLINVAR:953032 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56cc9289-c3ce-45ce-bf4f-36ce788c6e12 CLINVAR:953032 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed38401e-1260-410c-bc82-a4df4a6572ff CLINVAR:2903 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b6ab804-6060-4584-a12b-cae18287d082 CLINVAR:2903 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfce9901-639b-44e5-bd2a-9155fc85c654 CLINVAR:627296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4a22221-db4b-4f55-936e-f1dff7ce5147 CLINVAR:627296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac6a058f-92b3-4114-9154-cf487b838846 CLINVAR:953037 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9556363-8ab3-45b0-aaa2-a278a186d6f9 CLINVAR:953037 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8458d618-56b4-4352-a030-b0c9539c8515 CLINVAR:13564 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0176834a-6bee-4c63-beb1-2c71a5983a04 CLINVAR:13564 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7989ae4-cb88-40bf-ae54-6dea70335b79 CLINVAR:953016 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4c74def-f936-422d-b229-9621d020c8bf CLINVAR:953016 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5cb848c-d5ee-4305-8dfe-5080f4178b94 CAID:CA8623361 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eaeddaf8-d421-452a-8424-e500fb4666da CAID:CA8623361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be3c5d0-e076-4145-a50b-4c3c63bde007 CLINVAR:953046 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d38212ea-9188-4703-9a4c-434fe7033227 CLINVAR:953046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4529c909-7aca-4d59-90ed-820b752a4b60 CLINVAR:977132 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b712368-c3f1-486c-a185-e4ee221fdee0 CLINVAR:977132 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eee61f03-dbbe-4b0c-924f-87186b2da796 CLINVAR:1210195 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d9baae5-fec3-4ac2-95b0-915ea5a8c65e CLINVAR:1210195 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f5eef3-7d2f-4077-95e8-15f523fee4e6 CAID:CA915940296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bd4097e-3f15-4571-88ad-76fe3af6621f CAID:CA915940296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bf4c330-3ce1-4bf3-8463-2f7a75c266bd CAID:CA915940787 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2f8e62d-25dc-46e4-ac44-373ea81ef9ce CAID:CA915940787 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb6073a-6d08-4f94-b6f0-2207d6b0f396 CLINVAR:1210198 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 945c7e3f-d4eb-4014-8568-1cb0eaac910c CLINVAR:1210198 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcdfdfb3-f4a1-4a02-af65-a9e1a2c2f3fb CLINVAR:850886 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ca4e65b-cafc-4f39-bf73-e7fa5106dd37 CLINVAR:850886 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01ef50a2-8513-45b1-b268-fc1eae3a0f7b CLINVAR:1210199 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4386a6bc-27cb-43fb-b5c5-e2f102aa1e1e CLINVAR:1210199 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faaefea3-f22d-461e-aebf-b3fc108df8ec CLINVAR:1210200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccc748d6-fea0-4d7e-a744-0b88138bfb12 CLINVAR:1210200 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bebbb9b-d696-43c4-82b2-e007266e0e3f CLINVAR:2898 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e61ad29a-55ef-47a0-91ea-cef8173f1b31 CLINVAR:2898 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3222a105-0a22-42ae-b042-d8268fa2d934 CLINVAR:2894 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01dfe51f-831a-4ec6-a6c8-82dd46a044b2 CLINVAR:2894 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d0a4801-056a-4293-9da6-93e117e04463 CLINVAR:854735 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 571c0ce3-28a1-48a1-a960-3fceb37e4423 CLINVAR:854735 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3716769-ede7-4b0a-a342-8de1931b3e92 CLINVAR:13567 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51c305d4-490e-4cfb-89fe-cb107222dbd6 CLINVAR:13567 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d1024c1-7734-47a3-b284-17d65d8e04ea CLINVAR:1030781 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97555ec2-d219-48c6-ac10-bd84d1d8e095 CLINVAR:1030781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d0541d-3df0-48a0-b271-d81d510ebd8c CLINVAR:627273 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ca3d1fa-f342-46f9-83f7-5a01245b251e CLINVAR:627273 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a09717-74d8-42ba-b767-47fb3a8f20e8 CLINVAR:1210210 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7203d38-76c1-455e-aa0a-145a9176d811 CLINVAR:1210210 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e31be1-7f84-422e-b5c8-70343819c478 CLINVAR:2899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6bdc536d-f03a-4929-adf2-298d072485ef CLINVAR:2899 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9817fca-98fc-4615-a7c5-a691ebf8c1b7 CLINVAR:181368 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a59e925-c75c-4775-9e4e-49130a318ff2 CLINVAR:181368 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c599e18-9b73-41f3-bcde-f25014098215 CLINVAR:42826 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97ac173a-2e55-4954-b98f-95b19f09ca7e CLINVAR:42826 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e22c219-5f3b-4473-ae10-99d311562f53 CLINVAR:43100 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 911c1086-a8c9-4eb0-b00f-676a4aaec1ba CLINVAR:43100 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9afd0b11-4e0f-4c62-a65c-befd8ea3b337 CLINVAR:181195 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ee147f5-f29a-44ae-af6c-9151e426461e CLINVAR:181195 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8f4426-325b-4556-93f2-72912b9a1951 CLINVAR:217468 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0fd939b-6bd9-43a7-8304-d17ab8ec5e79 CLINVAR:217468 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47c9a6cf-70b5-4c0a-888a-ce153f16cc00 CLINVAR:164289 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9f4800e-7179-4378-a82f-be66a7e3494d CLINVAR:164289 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe0eec61-7a86-4c79-9a42-1c4d1d60e945 CLINVAR:14093 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be383f21-18cc-4610-b43f-17a6876551f9 CLINVAR:14093 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34922cd3-f70b-4f08-bb4e-4d825c42d41f CLINVAR:36638 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 597520f1-f1e2-4de0-b332-c492db7d5c49 CLINVAR:36638 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb7565e6-d098-44a3-8661-0375a51b32fe CLINVAR:42818 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e79b79b7-3af2-4ae7-a722-fa7cd8f8af8a CLINVAR:42818 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77eaaacb-2c3c-4a5b-af09-1b6ff42341ce CLINVAR:36637 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4bce918-8bc8-4392-b088-4ad4be7a6aee CLINVAR:36637 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 270f5167-47e2-4658-a362-9f96636d9b7d CLINVAR:133165 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5007e332-f212-436e-8bc0-0a3511fdab8d CLINVAR:133165 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e12908-8e18-4a3d-9bdd-52f630f3fa61 CLINVAR:374974 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0aa3ed19-4ee6-4601-bf7c-49c58613c8d7 CLINVAR:374974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64c0bc16-b8d4-4691-af5d-41c93702fec8 CLINVAR:590517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70923973-b268-4c49-8090-17789b8935b8 CLINVAR:590517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1870c16f-a0fb-4f23-834c-12d3b5162e94 CLINVAR:133168 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f630b3c-8c10-4da2-8504-7cdda7daa20f CLINVAR:133168 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff9ad436-aa05-4e6a-8876-06467a6f91de CLINVAR:590482 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0706f41-75f3-4f01-82c8-68dcf9011e48 CLINVAR:590482 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64762852-7d4f-4202-a465-371173d751e3 CLINVAR:1050940 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6d9b363-e359-4573-b329-8acb9b4741c3 CLINVAR:1050940 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2efba199-313c-4d74-a771-42491ca5e1ee CLINVAR:808527 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e07bc710-73d9-4d8f-807f-1717184ec3a1 CLINVAR:808527 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b24ae23-03fc-44f8-9ca5-c88664d40e1c CLINVAR:133146 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfd1c36c-511a-4b72-8213-690be017451e CLINVAR:133146 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f7ee3b-c503-4462-8a59-fe2969b63323 CLINVAR:889434 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d1a6c9b-b180-4224-b1e3-094792e4e1bd CLINVAR:889434 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8a042b-d90f-447f-ba93-f3d504bf3db7 CLINVAR:133166 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca594ee3-bb1f-46cb-bfaf-cbcad267a5f9 CLINVAR:133166 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a85b6df1-9a22-469b-b5f7-fdd3743bd7a8 CLINVAR:478249 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 746fb4d8-e060-4647-b307-12943a9ef41e CLINVAR:478249 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad40dd79-4b46-41e9-91ec-68ee66109184 CLINVAR:1210307 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dc0ea51-2a23-4b03-9d0e-7591482f9bbf CLINVAR:1210307 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 200183c7-9059-438b-b35a-4508107ec9a0 CLINVAR:1065119 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97fcedbd-d513-49ae-a119-c30ea2ee6af2 CLINVAR:1065119 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e388f34a-98b0-4ede-b72a-f710fb5cce23 CLINVAR:590575 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecf2257f-b216-486b-b91b-e21d7d21752f CLINVAR:590575 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3423eb8e-3dfb-45ee-890a-5614c25298db CLINVAR:65968 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b349114b-3bec-43e2-9f3f-408e3696ce72 CLINVAR:65968 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a291d452-eabb-425d-b0b9-e4433002e7ea CLINVAR:567662 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d431a592-8b36-49a0-ad0f-3ecaa8b69b6e CLINVAR:567662 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21d1da8d-5094-4535-aac5-dcc0d3ddc7a2 CLINVAR:590454 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f98a659-e568-4de7-98e8-bb7ecb80daed CLINVAR:590454 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06df8067-c157-4460-9622-8732ef50270d CLINVAR:590556 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b78e3e5f-73e5-4971-99b4-9d70b736e144 CLINVAR:590556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e63430f4-0f80-4d7b-bbf4-5cef35639da7 CLINVAR:133185 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cce7516b-1fe3-4939-9c80-1996b4af6aa1 CLINVAR:133185 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db946025-1e0e-4fec-b778-65ae8433c99d CLINVAR:133179 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0281e9b9-c0e8-4247-9d5b-03a872cc3042 CLINVAR:133179 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d020736b-633f-48b1-b057-91832973adb4 CLINVAR:167614 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da93bc09-2699-491f-ab6d-f9930870ca4e CLINVAR:167614 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a20d153e-c524-4181-96cc-22da3758231c CLINVAR:133081 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fcf0ab1-8561-497a-96e3-049debcde2cf CLINVAR:133081 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06581595-cae5-4d54-8009-fb6c31af244e CLINVAR:590580 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e272d025-9e43-4624-bf90-71251447d0cf CLINVAR:590580 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12f8f9ca-eaa8-4cdb-9964-a12b2552337e CLINVAR:1210316 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 797391e5-393f-4d16-a2ac-74e355a67b58 CLINVAR:1210316 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d46e408-4894-4f69-8e95-6cd1be29b61d CLINVAR:1210317 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5dbb3dfa-f5ed-4158-8a9a-429a194dfa35 CLINVAR:1210317 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b66a5d9-5333-4ad7-8655-237057770438 CLINVAR:133172 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df4ead5a-6ea0-4dbd-93df-81e00f10ede6 CLINVAR:133172 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f176d45-3dac-49fc-8df4-373947713387 CLINVAR:133126 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5979f77-5626-42ae-9660-32dcf20f5d96 CLINVAR:133126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59e38868-d2e8-429d-8cf4-3c8f836c954c CLINVAR:133018 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 342d1ecc-94a4-4070-b728-7da29d0ae222 CLINVAR:133018 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 975149fc-3688-4c15-a0cb-b4b1f2cefba0 CLINVAR:133124 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df4c4348-ecd7-4207-a3c0-6fdfbeb5a6ed CLINVAR:133124 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0318ce70-6e27-41dd-96c4-d7c58cd3f6cf CLINVAR:1210308 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3ee928f-aa8f-4ba5-ada9-9e45ea40cbac CLINVAR:1210308 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d68785-d118-463b-9c0d-7fc27130ce9e CLINVAR:133135 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e23bd048-7dd5-4095-925c-b0eb159bb397 CLINVAR:133135 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d346280-a1b1-4760-80fe-83c8775110eb CLINVAR:1210309 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d38cc8b-402e-433c-a73f-3c82148b89fe CLINVAR:1210309 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53ace788-d72c-4850-810d-35a7d1af3129 CLINVAR:133145 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef0f86e7-9bd3-4c31-959f-896f64c25c42 CLINVAR:133145 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1169f399-e02a-4d84-b068-65529d09794a CLINVAR:133150 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c929cde-96a4-455a-9aeb-af3b522faa61 CLINVAR:133150 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 348ca7e9-fc9a-41a2-a289-8cfc87adb247 CLINVAR:1210310 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cd79eab-fb4a-4476-bc3b-17fc9b0a3ea2 CLINVAR:1210310 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc587c8-bb25-4db2-a1ac-dd5f4776b6aa CLINVAR:1210318 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 666d4f47-8eb4-42b1-9c20-8bd0a993071b CLINVAR:1210318 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f806db3e-22f2-4870-b58d-1d282a567321 CLINVAR:1210319 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4ab43fe-0554-4829-b184-2d878872492a CLINVAR:1210319 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5273b71a-f020-43aa-8d77-24d6b6303453 CLINVAR:133158 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e428d8f-ba87-4ddf-8dcd-2fce55f91b18 CLINVAR:133158 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e4211ae-6c47-4a9a-9e50-2e08ffec803e CLINVAR:133161 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e848f325-7ae0-42fd-8956-7a658bf25c10 CLINVAR:133161 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca65e04b-d1b9-4d61-a483-fdb422798598 CLINVAR:1210320 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05e8a9d8-fcf8-4948-9e44-c5414086527d CLINVAR:1210320 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ab6314c-342d-40e2-9396-b1fbf71d2b16 CLINVAR:133157 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd1e668c-e6a6-4052-bd0e-cf068e02606f CLINVAR:133157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da25c64-6c50-4ac9-9c3e-37c94eaae67e CLINVAR:133162 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bae173ec-4997-4518-b3e0-a6d42fa10114 CLINVAR:133162 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d5a41f9-43fe-4b17-aba6-a6c23adfd732 CLINVAR:133159 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee6e80f4-e938-489f-a6ae-8e6dffdd8f68 CLINVAR:133159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 553508f3-cef9-4e96-a496-0012ff536dad CLINVAR:133017 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a471a7fa-d4f6-4e09-8081-c32410d40a78 CLINVAR:133017 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfbb5b6f-fbcd-48f2-baac-089504d823f4 CLINVAR:1210298 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6f31678-75fb-4e3c-8883-e7101d3aa15e CLINVAR:1210298 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31756915-a2eb-417a-ab63-30fc88ecd310 CLINVAR:1210299 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a4b4215-15e4-4d6c-af4e-943a51f492b6 CLINVAR:1210299 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a86a0c-82c5-4693-9280-9b36c97cda1e CLINVAR:133156 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f5b2cb1-04a4-42bf-a87d-4e48aa251135 CLINVAR:133156 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a15fcc78-9d9b-4e18-83df-e8933b968666 CLINVAR:978526 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17901298-89c5-4da0-a8e4-e3ad958a0876 CLINVAR:978526 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54623341-a0e4-441b-92ab-683bf05ae164 CLINVAR:1210300 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38950c1d-41ce-4f8b-9cd9-3d895bd3285a CLINVAR:1210300 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c3a461b-6768-4387-bf21-a114d1b884b1 CLINVAR:983140 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79c7bb04-87ff-4f48-ab32-df4e4e75c96f CLINVAR:983140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19bc36bc-d9f6-4425-ad5d-13d16f6eae90 CLINVAR:133104 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae8aadcb-d987-4b55-bb2f-5b946d899d77 CLINVAR:133104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 046c74c1-0bb3-4e8b-8501-1707ebc78849 CLINVAR:1213684 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38993b4d-9664-414a-bd15-c7c9dd785c72 CLINVAR:1213684 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2a50eb0-a42e-4b79-a566-011d1648b2d1 CLINVAR:1210301 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 350c91b7-2826-46cc-ab81-7625ba8dc47d CLINVAR:1210301 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd61117-b7eb-4414-b05e-04b6d2ad6484 CLINVAR:1210303 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f321507f-d357-4e87-8e29-0aea450688f8 CLINVAR:1210303 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a9f733c-efe4-4423-acf9-cded3129abce CLINVAR:1071064 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03e27ccb-6ab3-4190-a63b-2f412b826792 CLINVAR:1071064 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f0186b9-b36e-4c08-9e67-877d943d5d83 CLINVAR:1210304 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d94071a9-5d52-4724-8b1d-a3761d20c8af CLINVAR:1210304 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd7a0bb1-1852-4c9b-8d9f-1d4baf591737 CLINVAR:1210302 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7f8ca04-98c3-4548-bc53-9fa0b8f1d47d CLINVAR:1210302 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2633740-75b7-4a80-b9a4-bb202274219a CLINVAR:1210305 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49761b06-7164-4421-bd27-331b2a05a2d1 CLINVAR:1210305 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b591eb-7d87-40e5-bd50-88a50a32afd4 CLINVAR:1210306 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa7b8da0-7f09-47ba-b867-987e941dcf5d CLINVAR:1210306 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfaa6800-2a7a-44be-8e57-81c5a8d00110 CLINVAR:1213682 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 971ac447-0964-46fe-9df9-01b80f763f67 CLINVAR:1213682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b578e17-1853-44dc-aafe-d42b14f39f7f CLINVAR:1213683 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92ef7d2a-cf75-4bff-bdb3-33a427539537 CLINVAR:1213683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c27545-90b5-4ffa-b863-5c4ebf0d6e72 CLINVAR:1210311 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83dc3e5f-2ab4-497c-8932-ebb66d28bfd1 CLINVAR:1210311 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4137ac99-2efe-4625-b696-f25b2751950d CLINVAR:1210312 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e530890-ebb0-4097-bfe3-2fd23cead734 CLINVAR:1210312 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cecd4ba-ee23-4566-9d07-93c6bc62e1fa CLINVAR:1210313 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 969d21a0-f2fd-4398-902d-4d1b830d60ca CLINVAR:1210313 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 924d7fd9-a9af-4161-9294-a9973deb377b CLINVAR:1210314 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6032afc5-05a7-4c1d-97c9-5a547360ddb1 CLINVAR:1210314 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a00d1fc-0a02-4700-b112-5b217a38a306 CLINVAR:1210315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 867928f3-5517-4f27-9781-3003224ee309 CLINVAR:1210315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb517ff2-0dba-48ec-9b9c-2719bbc0d6e3 CLINVAR:1004840 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a8439ae-3556-4971-a48f-5b4f45b8027b CLINVAR:1004840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd61876f-6d42-42a9-9bdb-246376a581d3 CLINVAR:329032 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3172134d-47cd-4520-aed8-5699b358f189 CLINVAR:329032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9236dd84-38ce-4480-b828-7d641b48a83f CLINVAR:329033 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79f643f3-9d9f-4db7-aed8-263cef47598f CLINVAR:329033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e3447f-5590-4850-9ec8-38a4759cd5c2 CLINVAR:1213825 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41045f86-c48d-4635-b53e-b91dbcd06cc9 CLINVAR:1213825 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb86e9a9-a90e-413c-981c-e7c2cbe8a0b2 CLINVAR:544383 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9475e590-7784-45e8-b80e-ae1527ea9ed8 CLINVAR:544383 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25302888-c38c-4014-93f9-64ae12d6d16f CLINVAR:1009683 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3dfb10c-3902-48fe-83b8-0073fdc26465 CLINVAR:1009683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1038701-0d57-4e26-879c-0bdf54323ad1 CLINVAR:1213827 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e787d645-7249-4f27-a11f-6c05be26d96f CLINVAR:1213827 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7407cc93-a86e-4867-8c39-8795ec040cd2 CLINVAR:544517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cca6ae05-9d47-4fc7-b837-5b93adbc8a58 CLINVAR:544517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1086f032-6169-4fd6-b0f0-06b99e861bdd CLINVAR:1213820 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cab550b9-2f50-4fa7-ac23-c71e89707221 CLINVAR:1213820 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef759bf-6957-46ee-82a6-08608925f2e8 CLINVAR:590571 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0acc6b21-1797-499c-ba36-d1731328d1a8 CLINVAR:590571 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab6b8a9-7313-4e95-ba23-c43aa5f62ed0 CLINVAR:133163 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14ee8152-8bd6-491a-b514-ab651c580295 CLINVAR:133163 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56efc0bf-5f56-4263-9bd9-bb4572f12df8 CLINVAR:568713 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7b04609-fe92-4ee6-837e-1b990603d0e9 CLINVAR:568713 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31ff08a-ef67-4be1-9ce3-10b09f8a0f31 CLINVAR:590574 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9413f378-ea58-45a7-80ea-c25eaa3668e4 CLINVAR:590574 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be15d321-bf2c-402a-9654-cb3d8b41f766 CLINVAR:1213821 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b391213d-138d-4915-80d3-024d000df8fd CLINVAR:1213821 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8795bde9-c1ee-492d-8e18-4c586a136582 CLINVAR:133178 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7844dff0-297b-43b1-b87e-2bd26fa49e42 CLINVAR:133178 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da006ab7-f36c-41d1-9d5f-bbf01f2e6597 CLINVAR:133181 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e55648fc-ea1d-4e72-8dc5-d302df9d1f28 CLINVAR:133181 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97fabe2c-d382-4526-b4d0-02a955758ed9 CLINVAR:133184 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2c06d84-5bb1-40eb-b47e-cdc7baf470c0 CLINVAR:133184 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18f87dc0-5d96-4390-8e81-22a96f67aea9 CLINVAR:544455 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d936f3a-7e08-4068-bccd-6b53486b6b1f CLINVAR:544455 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c44c8aa5-25f3-40e8-a8ae-19d5c084d2f0 CLINVAR:133077 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19801f01-f604-4398-93e1-b53c117060d8 CLINVAR:133077 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5e20cad-bfca-4a8e-bfbb-caaa5667dbb4 CLINVAR:133082 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78a4fdae-3f3e-40c1-b8ed-1e5d7984bb49 CLINVAR:133082 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20cd052e-11a1-4b46-a182-00dd6b963244 CLINVAR:65988 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03e79672-5988-4c3f-9980-1924cee69aa8 CLINVAR:65988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90344b3b-938f-4860-aed8-13d3b3cbb53b CLINVAR:133087 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e003e80f-2924-4b49-8c66-2c4476b65daa CLINVAR:133087 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1d478ae-01fe-4569-8104-20acdc094758 CLINVAR:65955 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d122aa1-64e0-4ba7-80ef-43c5f3b0bdb0 CLINVAR:65955 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4b5b8e-68a4-4049-8e99-680fab5a8581 CLINVAR:1213822 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3892fb38-9bbe-4eab-a5f6-b6af012ad3b2 CLINVAR:1213822 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91447f6-1bcf-43d7-9aa7-401f3bfff0fc CLINVAR:1213823 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff2371e6-2add-47d3-9f97-0274f83fbd50 CLINVAR:1213823 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b50a7de-1f25-4296-80ca-4d6f38b34b79 CLINVAR:133075 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4da817f-f51d-47d7-a28f-e101ff8702e9 CLINVAR:133075 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c195072-25e9-45cb-978f-c346db22a830 CLINVAR:1213824 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e28fbe2-d0fd-47c0-8c6d-44568a730e23 CLINVAR:1213824 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b651813-19b8-4022-8239-506227e28658 CLINVAR:590472 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d487bd2d-3cb4-4ec9-b6e3-55c666657ce2 CLINVAR:590472 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b4b71c-aef1-464f-a85b-f894d463d1fc CLINVAR:102675 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0dd9995-9352-4af3-9e19-35db2d48121a CLINVAR:102675 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3704a2c-2e18-4d20-afec-b1bd792bf0c0 CLINVAR:102768 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2fcdd65-f987-48d5-a2da-118baf3b0235 CLINVAR:102768 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a3ce68-fb34-4e7e-836d-a98bfe67328d CLINVAR:1327560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1dc6fa4-4b9a-466e-b8f2-82aabd60ce7c CLINVAR:1327560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0f399d1-ca81-49d0-a47e-eeacdc271ab1 CAID:CA16021003 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 854dc2ee-5c9d-4bd6-930e-e459020e1e41 CAID:CA16021003 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b7a04bd-3b60-45eb-85c8-14e707246e2f CAID:CA16020936 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a37b422b-d10e-4e88-abd7-2e2455424b24 CAID:CA16020936 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab1cd06-dc7a-4a76-b403-600936b31893 CAID:CA16020941 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 690c65b3-a8c3-41b2-9a1a-406b9eefa943 CAID:CA16020941 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80c6fdbd-ee17-4955-9121-2579afa651f3 CLINVAR:102860 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 860cf206-d0ea-4896-9e8f-47c518ba97d8 CLINVAR:102860 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d26de3-b082-46e3-8575-183f48181538 CLINVAR:551270 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7444033b-8879-4fae-899e-ee3962a4290d CLINVAR:551270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5bd3554-4c50-4b09-aa27-5d45e387136e CLINVAR:1327501 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf4701d4-f57b-4aff-a067-773aa8afea5a CLINVAR:1327501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c9317e-260d-44ef-ab56-5be8dcc0f8c6 CAID:CA891862619 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45c15369-4808-4689-a95b-d27e2e04443e CAID:CA891862619 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d147410c-3c7e-4881-bdb2-7f3a05105ebf CAID:CA658795288 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5b82ffd-544e-45fa-ad38-88380fa5943e CAID:CA658795288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e44b2b43-dcfc-4df3-8a67-cb5ae000ebf0 CLINVAR:1693552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 471c730f-89b1-43e2-afe7-59fcb9f0f82a CLINVAR:1693552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3758a67-f847-4847-b723-a823802f8bfd CLINVAR:188806 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 298253dc-4e6b-46aa-84e7-a4c08d205e8b CLINVAR:188806 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e10fc3c-aad1-48ba-bf6a-6cac21ad317c CLINVAR:194154 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d90bd535-996d-456f-bb33-eeee1b272d0f CLINVAR:194154 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 660b6dfb-fde4-40ea-9c24-cdcfba2121ea CLINVAR:4029 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a68db709-befe-41f9-83c5-181116708aec CLINVAR:4029 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aaf122e-5864-43cb-a7a6-60b2554d8e21 CAID:CA251545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e88b897-b855-4911-9d0e-b21aa1c94430 CAID:CA251545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a82ce40a-3932-4a26-a949-6cd8310142cb CLINVAR:558612 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd95f49b-9ec9-4025-9887-4dd86af1cff4 CLINVAR:558612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44eb07c7-5d6d-4e0d-8d43-dec727903bb6 CAID:CA16020968 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0178189-e5a7-431c-aab0-bd1711766a3f CAID:CA16020968 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be1e58a-aa70-4e5a-925e-1aa824de8e10 CAID:CA16020934 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fe0023f-456b-4d6e-8398-2a9aa867da88 CAID:CA16020934 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89fbf27d-c65d-447c-8a81-1e93e2634b4c CLINVAR:552488 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e1238c5-eb02-4ae0-9699-e07347e8e86a CLINVAR:552488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 035439fa-52b9-41e6-a76c-e7c3d8a7fda2 CLINVAR:660581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5fe54af-f8d7-4829-8234-e3314ba4fc80 CLINVAR:660581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db4ad771-f488-456d-882a-39305b3bc38f CLINVAR:102538 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3832fbe-3df6-45a5-b2fb-8e63086c7e9b CLINVAR:102538 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2663a3fc-0244-47d0-a06e-df804ab85692 CLINVAR:102771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a919642c-a7d4-46e1-aa43-3f2100ceb225 CLINVAR:102771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 949903bc-23d5-4600-9ae4-567d88e2aa35 CLINVAR:102773 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 594b4881-f642-4428-b155-860fc15b77ff CLINVAR:102773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 123cdb18-1950-4508-85dd-5133e9b540fc CLINVAR:102775 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9797a4a-d0d9-49ec-abad-e44389ef44c8 CLINVAR:102775 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e76a301-3a7b-4cd4-bc29-ee3080b4bec1 CLINVAR:234613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 883987ff-e8a6-4f0e-a58c-e9966d48c8b0 CLINVAR:234613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b3bd1b5-fd80-4019-860d-4033573265ff CLINVAR:1292057 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a67eee0-af05-4001-82b5-9c23290e09b7 CLINVAR:1292057 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a25f7424-ea4d-4fbb-99d8-f2fbdf7352d6 CLINVAR:102861 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b17549d-df5b-4412-b81b-dcb0ebfc8c55 CLINVAR:102861 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e188747-e45b-4c4c-8dfe-38bb66ff6fc2 CLINVAR:237950 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fde894ff-5a2e-4059-95fb-434ae42d70bb CLINVAR:237950 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd6f0b5b-48ba-4129-b35d-f8317aaedcf1 CLINVAR:406604 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7c1c4b4-0529-4619-8685-80470996c26a CLINVAR:406604 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2d62111-5020-4501-a624-eea5197af5fb CAID:CA16020837 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5056b358-0eb9-45d0-8937-4588623251b5 CAID:CA16020837 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea7269d-ec8a-4cf8-8682-7e942684cdb5 CLINVAR:557425 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6318caa0-7c0f-47fb-8083-a2de0b219dc7 CLINVAR:557425 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1584b996-db79-44db-bc82-914d11d02986 CAID:CA16020844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6e54a45-0f69-49bc-b624-c594de32f6d1 CAID:CA16020844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca4bc8e-527c-48d6-b3bd-bb446f5cdf98 CAID:CA16020848 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26dee547-d823-4326-933e-2190244e3adf CAID:CA16020848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18b6d2f1-8fba-4ce8-902f-1301b24eae0f CAID:CA16020914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2f12c87-c67c-49ab-af14-414cbd271ae5 CAID:CA16020914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29a03ea8-4011-4870-9849-db6bc32ee5f8 CAID:CA16020927 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8d9bcef-b761-4200-8dea-44eafc5ddbb4 CAID:CA16020927 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4315f158-682a-40c4-aa14-e66b24f21225 CAID:CA16020942 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 382d170a-aae3-4191-91ed-e4d55ad6e9a8 CAID:CA16020942 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8362a6ca-540e-45cd-8ddb-acdb43875706 CAID:CA16020952 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8841d34-50bd-4fd3-977d-cbdd1fa3ec0f CAID:CA16020952 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68e996d9-3b0c-40ef-abcb-2379231c2a25 CLINVAR:862570 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b6fcabf-a9c1-4cd6-b903-4dfad1a6e5b5 CLINVAR:862570 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f3da633-cb37-44ad-bfcc-b76e16da738b CLINVAR:551592 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40cb34f1-c127-4c17-8b0d-58fa6e4e0694 CLINVAR:551592 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c8fa14c-d761-4b16-93f2-d891ebacf374 CLINVAR:189059 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 816653fd-9e8e-4b61-aeb5-a3f194182dda CLINVAR:189059 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b2d94b-ecda-4e81-a46a-e6459a810731 CLINVAR:556716 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 239cdf6d-47c7-4c01-9e03-f89c54a8841d CLINVAR:556716 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055e5edb-c9b6-42d6-8955-ac267444a92b CLINVAR:552747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edeaa830-b3ae-4c67-8ecc-8f334666d649 CLINVAR:552747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44e51de-8ba9-4c74-96e0-03686234d055 CLINVAR:554096 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae28b3bd-7f09-4e0b-9bad-e6a4540f4012 CLINVAR:554096 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ceef52d-3b7a-4d08-a00f-41992e6640ec CLINVAR:550277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39377a76-f6b9-41e4-916d-5e720b1208a3 CLINVAR:550277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44b010f-cc85-4c4b-8836-a7c24f0529ae CLINVAR:370552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ab7ff3c-7e8a-43b3-a52c-1d635e0beea6 CLINVAR:370552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9799f4c-ebe7-42c0-b19a-158c384c74ca CLINVAR:370639 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62a78df4-a0b2-4fcd-9a22-b48581e79feb CLINVAR:370639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 644fdc56-65db-4cbd-b928-6d80f402113a CLINVAR:370993 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db6eac7c-8ba8-4121-b1df-65b878c5dc16 CLINVAR:370993 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee52d957-7ee5-4246-b396-09f376401f1a CLINVAR:555341 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebf9eb19-c427-4960-a511-c747cba493fa CLINVAR:555341 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315df8e5-c1dd-45d3-90b7-9a95186bcd4d CLINVAR:558571 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e71fdff-08cb-4a55-b79b-a83d3cc6353c CLINVAR:558571 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a7a923c-2d0c-42c1-a745-1f46f5b36611 CLINVAR:92480 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5990028d-ea47-4dc2-84de-dfeb02c57543 CLINVAR:92480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a80ca0db-db71-45a0-82f1-0de2b0241041 CLINVAR:550478 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b70de51-454f-4d41-9303-6e44c2be778e CLINVAR:550478 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c821801-f335-42ca-913c-6c2467175958 CLINVAR:597005 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce512d71-4c32-4ec8-9c4a-6cd1ea1ca672 CLINVAR:597005 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e2a624-49d1-444a-b785-a21f75005ad2 CLINVAR:42835 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f448ad2-8186-47cc-8c83-3330907be4e6 CLINVAR:42835 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07b8f0cf-cb39-443c-84c3-f9fb9fe6717d CLINVAR:42840 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bfab3f6-6fa0-4d60-b444-a750194b26d6 CLINVAR:42840 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e52023a2-cc7d-405c-84b9-ce5c4a2a92d2 CLINVAR:42860 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9693dd1e-26af-400e-bb0c-6785fe2160fb CLINVAR:42860 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612ced4b-c747-4d5f-b318-67f8713a66cc CLINVAR:42876 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c099553a-8010-4574-a598-c965230ecb3e CLINVAR:42876 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 019223f6-86bb-4d0d-9f9e-64d4a1bba1f4 CLINVAR:42948 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca61d244-843c-41f3-b127-dcb382160cdd CLINVAR:42948 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f2b83e-8af2-454e-8ceb-d385469e9c88 CLINVAR:42960 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c38e7633-df02-42fe-9a01-c001e7b4c965 CLINVAR:42960 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f4b9ed8-ada0-4905-ac90-f9d0dff69e05 CLINVAR:43028 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3511cc5b-125a-4c99-953f-38cbe2a1326f CLINVAR:43028 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9faa047-9fc1-47c3-a498-dc0881bf8254 CLINVAR:43064 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a92bed40-27ea-4c7b-9786-9fcef742b348 CLINVAR:43064 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6501fa7e-5cba-4c86-b28c-e7a3709f5459 CLINVAR:161323 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fe1c537-057c-442f-9945-c147f0d132ae CLINVAR:161323 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e208e0a-2e64-44e9-ba81-a6f658743611 CLINVAR:164316 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d36438d7-a8e8-476c-b8d6-21f82e097ed6 CLINVAR:164316 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b0e344-f413-4f20-8d87-ca0ce1385ebc CLINVAR:42926 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6194159d-8331-4680-8f5d-663ff731a8e7 CLINVAR:42926 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 579e3fa2-0da5-45e5-bc52-4a309f444122 CLINVAR:164319 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8464d063-0821-47ef-8a50-133881a32add CLINVAR:164319 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2135bb8c-8157-47fa-8c36-cca4cce350b0 CLINVAR:181203 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f728f388-e0a3-4370-9a05-f5d788391cd3 CLINVAR:181203 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e4206a-56c5-4aba-b7cd-189ecec0c6ce CLINVAR:164381 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4de4175e-7dbc-4502-9cb3-e5939db746c7 CLINVAR:164381 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34e6c113-a045-4d7d-9ecd-4d509c2fb249 CLINVAR:177667 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95b7c4f1-bd75-4708-a85c-e7b67df545c4 CLINVAR:177667 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16252347-cb48-480d-8149-a5cc1d7944da CLINVAR:177734 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 365b2c95-a192-43b6-9394-c8b3fb24b743 CLINVAR:177734 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f056eca5-95ed-4380-bb67-08120acaeddd CLINVAR:177847 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90ff1125-313b-433e-9fa9-7008289218c0 CLINVAR:177847 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90ddabc2-ee4b-428a-aed0-52f749e00d0b CLINVAR:179272 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 110501d6-c9ef-46c8-904e-a51ec6f63992 CLINVAR:179272 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 008edd36-92ee-46d2-8550-dfccab032e4f CLINVAR:180439 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb09e415-c825-4959-a75f-e22799524ffb CLINVAR:180439 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e5f145-34ac-4176-83d0-8651e19e80bf CLINVAR:180441 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e5d1e6c-0c5d-4a48-99b2-7fa31d45b3c1 CLINVAR:180441 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ffd375d-222b-4674-b899-40b58ae595e6 CLINVAR:43097 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7226e67a-f0b8-4899-9358-9be351fdbb66 CLINVAR:43097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aacf064f-9803-4ae6-8382-190012ccee3a CLINVAR:180434 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d090b2aa-d074-432a-bfd4-cfd864894590 CLINVAR:180434 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57a5ac2-3479-4d54-abe8-2a6949a7b026 CAID:CA16020978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c732da7-d28b-4157-8926-704faff219fd CAID:CA16020978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d359653-0533-4750-80dc-8b2dc7d53e81 CLINVAR:549912 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a4313e9-9f52-440a-8301-fcaf5b9a2682 CLINVAR:549912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cc77b7b-c232-4b16-8397-b52ca362b528 CLINVAR:127811 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32e367dd-99f1-483b-a93a-645edecff6d9 CLINVAR:127811 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceeedfaf-9b27-4ab1-9904-2563087d5ea5 CLINVAR:973858 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f92b322-ad37-4582-b3bd-c28d286823b8 CLINVAR:973858 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34fc8cd2-10b4-4219-9554-2affa1a46b2c CLINVAR:102681 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be4ceb24-3904-4dec-ba27-7e91c4f36de9 CLINVAR:102681 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa35b09e-1490-4392-84e3-95b30f56c64b CLINVAR:9641 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70be3bd8-89e5-4619-a89f-91922cac071a CLINVAR:9641 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11095d99-fb4a-419a-8870-e26aedf06792 CLINVAR:1065382 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00898ec7-cbbb-4dae-93f8-5a36de9e2a27 CLINVAR:1065382 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff2bd653-5a41-4438-8c1e-29d1ea41aa0b CLINVAR:9642 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c4b8cd5-38ac-4fe2-b246-74add0ad20be CLINVAR:9642 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb0373d-b847-4787-9e8c-3b18d4c9c146 CAID:CA916084430 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74be1311-79a6-47b8-acbd-3fd570457588 CAID:CA916084430 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f14fdd-1f3f-4486-b983-9bebb5180aa9 CAID:CA916084429 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a318b931-a80a-44f7-94ae-5d453c9c3a66 CAID:CA916084429 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb50e3d-4945-4275-990b-b771531e8fda CLINVAR:890601 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69c1e8d1-2551-424e-b18c-08f2118c369c CLINVAR:890601 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae4bb2cc-cfef-42b3-b46d-0b99a4c6111a CLINVAR:265901 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24d9553e-e4ce-41af-87a7-43f647ffcda1 CLINVAR:265901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c225fc10-af43-407f-93f8-3a4ca307c04c CLINVAR:650703 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb5f0867-46c4-4603-a1d2-772b8883e44d CLINVAR:650703 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0828aa8b-e584-4349-b660-d958493009f1 CLINVAR:977125 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a83838e2-4424-4d56-a9e2-f8d67452fa63 CLINVAR:977125 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691e61c4-2d7d-4027-9481-87e4b1d17c65 CLINVAR:953025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cdc93dc-3ca1-42ac-9d79-31cb322aff6d CLINVAR:953025 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06f8940b-b68a-40e2-b1f2-06d46df17c6b CLINVAR:2323 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c149cc03-ec8c-448a-851e-75502308bcdc CLINVAR:2323 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef42521f-1072-49f4-9f81-6aa96907a245 CLINVAR:39816 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2f7b0f0-ac4f-4e4a-a2f5-c148116c3e25 CLINVAR:39816 biolink:is_sequence_variant_of HGNC:393 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34dda8a4-302c-4e0b-94f0-721e9d23c9b0 CLINVAR:664963 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffabb2ad-84ca-4ebd-99e1-74f641dbd2d7 CLINVAR:664963 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f16ab167-5fe6-4d76-bbde-cfc9949c2c83 CLINVAR:995382 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed010de0-1114-45cf-b230-30f8916a7751 CLINVAR:995382 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c37ff57-a383-48ee-bc55-6be605d1521a CLINVAR:39808 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8609f2a7-7b16-4041-b8e6-099968df5fb1 CLINVAR:39808 biolink:is_sequence_variant_of HGNC:8980 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd437652-9afc-4fe1-9092-b5064cc60a6c CLINVAR:376130 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9389378-d08d-4137-9225-e0c700ee2d4c CLINVAR:376130 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc5ea8f-67d1-418e-a1cd-7510686b9732 CLINVAR:858694 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 142e40ab-5bca-4302-bbd6-c0a43527be6e CLINVAR:858694 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc60ebc5-bb26-4b78-b868-faf418e36a30 CLINVAR:376453 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d993ba19-289e-45b9-b556-53a5255595d7 CLINVAR:376453 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c6048b-0be0-412e-9547-0715ea669876 CLINVAR:1296990 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6432f46-5cec-44b2-9fc2-5957965b604a CLINVAR:1296990 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfdfe1f3-5c9c-43b2-a323-57eda1a58df0 CLINVAR:833713 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b13d0e95-0d9e-4b70-a130-d9b85ca84882 CLINVAR:833713 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d94bd9c9-d497-49da-a5aa-a119ddb2e9a0 CLINVAR:374796 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f7c9685-3d22-4546-95f9-a31111b830ab CLINVAR:374796 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0794316d-2dff-4230-99fe-40f7bcd8bb7a CLINVAR:1296992 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0902bcaa-48cf-4940-9af1-80076c8bf011 CLINVAR:1296992 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f5461fa-cc5e-4ac1-8204-e3dadd36fa64 CLINVAR:31944 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 383b2e68-1608-47ac-b474-3dbc27bb1ea9 CLINVAR:31944 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74cebd9d-71e3-4049-bb0e-2a3897eef1cd CLINVAR:39703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d64f6ee3-6e25-494e-9add-d1e9e2f84717 CLINVAR:39703 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c878721-8866-4028-a701-efee81f7364c CLINVAR:1296991 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b140f16-fff0-4234-bb0b-6879cfb09229 CLINVAR:1296991 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e675bef0-0bd5-4508-bc32-e381e83a4303 CLINVAR:376476 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fc91f20-c13a-4cec-895d-b7ab85d56783 CLINVAR:376476 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c93822f-5e7e-40e2-a6d1-3d3da765cf17 CLINVAR:156702 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6de0834f-fb15-4a7b-863d-dde37ea8565f CLINVAR:156702 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfb9bcb9-2ee2-4ebd-842c-377d0bc10c57 CLINVAR:376129 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac850a45-049b-4d85-838d-feba7c09f8f7 CLINVAR:376129 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1da009e3-dab1-440f-b7e0-d403902bf967 CLINVAR:1296997 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ce1f4bc-052f-4be3-b04c-9385007c2b31 CLINVAR:1296997 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c20841d9-da6f-4473-ade1-c2c65864635b CLINVAR:1296994 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9dcd24e-e051-41e8-8969-24a7320ad745 CLINVAR:1296994 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b14a5cbb-5418-450c-95b3-2f38d4d3b5e8 CLINVAR:1296989 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52282f99-e3af-43b6-a2ea-887b2f6839a8 CLINVAR:1296989 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec5dc571-3348-481f-979e-10db87df2e43 CLINVAR:659938 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82ae9868-45a4-480e-9268-8bc99fb22548 CLINVAR:659938 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222977de-a8ca-4cfb-9e9a-b3c8620c00a9 CLINVAR:1296993 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 929a3a3b-da85-4650-99df-66748d0bb233 CLINVAR:1296993 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcddf090-4406-4d50-a29f-d2290e40cf6a CLINVAR:1296995 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c024f4a5-a791-4203-b383-1d6aee0c8fb3 CLINVAR:1296995 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6617130-6b6d-4f4c-bd0e-bae94bbfac73 CLINVAR:156703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41502808-ecf1-4fd8-b01b-2fc016c322fb CLINVAR:156703 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a798defa-61b8-4fbb-94f7-72b307d1fb9e CLINVAR:1296996 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39128577-1e7f-40f7-bbef-a870c4b910f6 CLINVAR:1296996 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13fe13ec-8745-403b-a9d1-50ae9f73e3c2 CLINVAR:417723 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24f1720c-600a-4fde-a369-7173e45ca48d CLINVAR:417723 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aaf88a3-2238-4168-848f-118a6667cd72 CLINVAR:13652 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 677f96a0-5676-4ac6-b148-2e1515edd970 CLINVAR:13652 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c650810a-6011-4574-bc78-68969275520c CLINVAR:693058 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d14e4ebf-51d9-4dc5-8899-2543194936be CLINVAR:693058 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8aeb08e-99a0-46d8-9bdd-e9be10d02c9f CLINVAR:1172526 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe6ef467-bef3-4810-9307-9a65e9fa6fe3 CLINVAR:1172526 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 022fa325-df8a-4548-97d3-fb8d6202b3f8 CLINVAR:658833 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6966503-f72b-439c-9864-716aef3178ad CLINVAR:658833 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c8f2c5f-7572-411c-bd99-f47b600e786d CLINVAR:329444 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebd65852-868d-4d0f-99fb-1bea97d4b46a CLINVAR:329444 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df58f5b-381f-4c9d-8fc5-6c72436130dd CLINVAR:329442 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11a52c11-4612-429e-83bf-35ebc6cea29c CLINVAR:329442 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a91a8177-5b09-403a-97be-81edd74a03b9 CLINVAR:214936 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e87108a-c186-4847-80c5-1943037055dc CLINVAR:214936 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c3429c2-bd8f-4bc3-9f94-d2e27afd4d1c CLINVAR:214938 biolink:associated_with_increased_likelihood_of MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69bda71b-a663-4803-929b-e0448f4a706c CLINVAR:214938 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17cfe2a3-e1e1-47a6-ab11-f06153e3da36 CLINVAR:972803 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ede40723-b702-4c87-961a-d5c67a15c4b2 CLINVAR:972803 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88247c28-daee-4c2f-a20e-4f28ce05320e CLINVAR:1327503 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b31c46ad-fc34-4856-b33c-31c7a77dc3d0 CLINVAR:1327503 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da10aa72-cd53-49b3-aefc-47120fd0d06d CLINVAR:1327504 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 109bb78a-994f-4092-9490-85384c1ff162 CLINVAR:1327504 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 981f0442-2129-4c71-bf41-4c296e446f80 CLINVAR:371481 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9500a356-f3d7-4420-8f4a-7a6da091a148 CLINVAR:371481 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1549a441-d871-41c5-9c4e-0902e1796c38 CLINVAR:551558 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e39c2773-092f-40b3-8852-9c12fbf29d3a CLINVAR:551558 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 320e671c-a573-499b-9d35-77657ca4fcd6 CLINVAR:9714 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen daf14cff-75d6-4a59-85f6-3efdbb84a5f0 CLINVAR:9714 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bfb6dd1-d011-4507-aee7-a3dc2d112a2f CLINVAR:555153 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cb62a97-c001-4653-8cd0-92762104b395 CLINVAR:555153 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ff2c06f-2105-4406-94c3-529f98348feb CLINVAR:558700 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f42e3d2c-70cf-455a-95d3-454aef2674e7 CLINVAR:558700 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f1aaa64-009e-4ae4-bd11-c7bd845d0a5c CLINVAR:956209 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13f7677c-47f7-49dd-984a-52f65a7d1486 CLINVAR:956209 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aedd639-92fe-485b-8ba4-99301370c691 CLINVAR:9702 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fef97bc-34ff-470c-88cf-a071ea1139e3 CLINVAR:9702 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e90fd8ea-abac-47e9-88a4-a8967af2c504 CLINVAR:689930 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a13bcbe2-4d96-4646-a081-c40871180710 CLINVAR:689930 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b694411d-191e-41ef-8a1c-1a80171b3a39 CLINVAR:265160 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be73e966-775b-4d45-91d0-ffc63946f8a1 CLINVAR:265160 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a305c9-ba33-4893-9901-3ce13db3766f CLINVAR:1327591 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad4aec15-83a2-4ba4-b929-e269a630ee20 CLINVAR:1327591 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5fb0fde-8086-43f3-8645-ee07dd68831b CLINVAR:1327600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93be5c69-0b9e-43f6-bfb6-76138f4f4d25 CLINVAR:1327600 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b05a548-c39d-4546-8c3a-1500d5558228 CAID:CA386959939 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c368c60e-a0f1-4b2e-a4b8-4ddb1e8c3d39 CAID:CA386959939 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb83c53b-c8e5-4e46-833e-961be0c46fab CLINVAR:1327616 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da493fcc-af77-4dfa-a7ef-df49191b0de1 CLINVAR:1327616 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcabe0a5-ea43-450f-844d-c2619c9ab0bf CAID:CA386959900 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9634216b-2e68-44c8-b0d3-389afa4dabcc CAID:CA386959900 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e727807-c28c-4fad-b398-a59ad0864cb9 CLINVAR:586798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63c46af5-f46f-4300-86d6-ed2878b26c97 CLINVAR:586798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ccd147-ca7c-47e0-80e9-a52d4e6d584d CAID:CA386967824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ef94e39-4f7f-44b4-afeb-6c1e97ea3d2b CAID:CA386967824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a615e15e-880c-4f66-be87-2b21a77c798a CLINVAR:617646 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 159e03df-9664-4dac-b341-71d77523e8cc CLINVAR:617646 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f684e6b-c276-4930-93f1-74db1e1159e6 CLINVAR:1327622 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b53d223-e7c0-401e-adb2-4f92dfff054c CLINVAR:1327622 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c90e9efa-1894-44dc-8757-bb06e03666fe CLINVAR:1327592 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b9abd23-3b51-4688-8e48-e938e2a93193 CLINVAR:1327592 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec8da247-18b4-490c-97b3-dc0bf023ba82 CLINVAR:1327593 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e06174f3-7a8d-4b96-95b6-2bd2810583b7 CLINVAR:1327593 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af8e378-56da-454c-ac8a-57004d001df6 CLINVAR:14930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d384c23e-b7f9-4723-a0bc-55a3e5010d46 CLINVAR:14930 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b492f8b3-5b09-4453-992b-0b9f4591e0e4 CLINVAR:1327594 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd7bde11-52ab-4d81-8ab9-be257a823dd3 CLINVAR:1327594 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0db8b6b5-a779-4da6-b916-2c6fa18cee3b CLINVAR:1327595 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c4d9ca7-702f-4ff7-b7ef-ee014af9bb09 CLINVAR:1327595 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f118f5d5-cbe4-451d-8a2f-27ee9aba347a CAID:CA386965858 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2652ef5e-563e-4786-9a99-6bbf64ffc42d CAID:CA386965858 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3855e70e-e6f9-4a22-bf31-df74e006f7ee CLINVAR:1327597 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54ca8a47-6301-485c-8625-8976136baa32 CLINVAR:1327597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e83908a-4207-414b-b1ab-85984a5702f9 CLINVAR:1327598 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e4c957c-1e74-4a56-86c5-2b47b8a1b8af CLINVAR:1327598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e06c46f-e7fe-4151-8566-3695b3ee2542 CLINVAR:1327599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d803df3-e144-4df6-82a5-1f58d8520b89 CLINVAR:1327599 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d03f32c1-b56f-404c-936f-0151ebabfb78 CLINVAR:1033090 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6acbc652-d68c-40c7-ae4a-481abfa5163b CLINVAR:1033090 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a9db493-a079-496f-858b-f3c219d46d51 CAID:CA244520175 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a2d2830-3bc0-4836-9385-1adc3917616f CAID:CA244520175 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c85fc427-bf09-4cf1-ba5d-695ed415fa7f CLINVAR:1327602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 086d6f21-542c-4122-aae8-2592b3c3548f CLINVAR:1327602 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13fa6e3d-4684-4e78-b789-7d00c4b6111d CLINVAR:447488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c19f2f35-2a3a-487c-82df-f6c9f3ffb4b1 CLINVAR:447488 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3fc7fd5-c541-4cb0-adc3-d2b6b8d5beb5 CLINVAR:14943 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b6d0ae6-bae7-4815-9427-03b15065a5d3 CLINVAR:14943 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1914013c-d3ac-453d-8074-1de50ea2cf15 CLINVAR:14933 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5c8b5da-9caf-4b15-81f3-95e3c6511dde CLINVAR:14933 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ed0697-eb5d-4962-b48d-94093e92eb6b CLINVAR:562373 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91bc9db6-0e38-422b-8f94-a9e2f2e2dc07 CLINVAR:562373 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b25d5204-cd99-41f3-8a6a-ad15c6cd17b7 CLINVAR:1327603 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31e1bd7c-9b30-42f5-a761-79d21ccd21a9 CLINVAR:1327603 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b3e4620-46f6-45af-ace9-ceb5d68dd913 CLINVAR:994547 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac12a52e-d5c4-4830-9fad-481f4fc4a7f1 CLINVAR:994547 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f04f1991-7169-4618-93fd-3cac050e0cce CLINVAR:484614 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3e72db9-f5cb-4de9-88fb-2412352ebb4f CLINVAR:484614 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87810da9-c240-4504-9dd3-13d9dfe89307 CLINVAR:9689 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 646f76ae-2e8d-4712-b82d-e7a2d4873684 CLINVAR:9689 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b31ad1c4-520e-4664-ab18-22996dcfac90 CLINVAR:9579 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16fea8fc-57dc-4104-be0e-467bb1fcd0b2 CLINVAR:9579 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e2958ef-6456-4740-85ac-fffbdba5c628 CLINVAR:590492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 976c5778-3e9e-41c2-9869-3415b0136235 CLINVAR:590492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7832350-bcc1-44ce-82ad-0e24e4796d87 CLINVAR:133093 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c86a470-cdae-4c20-9dbf-2b4b7dfa2313 CLINVAR:133093 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcdafe89-e96b-4418-98d7-016936be68dd CAID:CA16020828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ce927d6-31ae-4fde-baa7-8f409c92e0c2 CAID:CA16020828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 793b8ff5-40a8-4e14-955a-8025439c466e CLINVAR:1327604 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a95f029-5f6a-4e71-8642-8f0df9132350 CLINVAR:1327604 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9483c0a7-957b-48a8-b78c-44c561e51c5f CLINVAR:1327605 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66fda54d-e71e-494b-92eb-e86076a416fd CLINVAR:1327605 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 091052b0-0189-40cc-9738-0f5ed56e27d2 CAID:CA2023554331 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49628d4f-53f2-49f5-bbd5-c34f314545fe CAID:CA2023554331 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49d6f197-51bf-4cbc-9f39-dcdf44becb4b CLINVAR:1327608 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcfe8222-7f39-4a04-af5e-defe820ef2ce CLINVAR:1327608 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb58d680-3c3b-4eb5-9664-67af7424c70c CLINVAR:1327609 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76cca39b-f51f-4dd4-8b62-e3b8de42bf26 CLINVAR:1327609 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02288924-7018-4818-ba36-2bf78f20e746 CLINVAR:1327610 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2aa6ab10-f6a8-42e0-8311-d72c52e245c0 CLINVAR:1327610 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9327ed07-c1a1-4a83-8f75-4cd3348be410 CLINVAR:703089 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 055eb39c-2133-43a5-bfb0-279d82df77ea CLINVAR:703089 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed7013e2-98ca-423a-897d-848dc1d906f3 CLINVAR:102539 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e23fae6-978e-4edd-8ebc-c112c0654648 CLINVAR:102539 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efbf4c8c-c599-42ff-bda5-4368e8897d7e CAID:CA16020982 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b8258be-a028-4a1c-a76c-2941bdb92b27 CAID:CA16020982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e99b462-e4f6-4d3a-9b5e-1cceee0b18e0 CAID:CA16020983 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f862c11-938c-49f8-a845-05d2075a221d CAID:CA16020983 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e1545ff-79fc-43d1-b232-034d451a43f0 CAID:CA16020990 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1586fd8a-2889-4636-b5cc-e5b21713785b CAID:CA16020990 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5dcdccd-5283-4d41-a5ab-102ad2835964 CLINVAR:962987 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47558c99-28b4-4f71-89ba-2d6889a9a65a CLINVAR:962987 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827dd986-c80c-4564-a896-eafc1e16df2d CAID:CA6748773 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 614286ad-b05b-4a13-a76a-db97335d6adb CAID:CA6748773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 102eba14-9d0f-42ea-808d-8f019174facc CLINVAR:102528 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4919955f-00e0-4b7f-938a-425fe29e561b CLINVAR:102528 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 066f1a40-faf6-4944-85b7-a11f803e3f9a CLINVAR:102545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4dd50fc6-115d-4a32-9acf-7e010fa5216a CLINVAR:102545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0de24c4-712f-4f3e-a19c-2ea21a881271 CLINVAR:102546 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 441156fe-0307-49c4-b29b-6a6a381cf4cb CLINVAR:102546 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78a137f-ea47-4cde-989a-f1cdefe4b49a CLINVAR:281052 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1880d79c-1a1b-4a3e-a687-c1fcfb0c1a92 CLINVAR:281052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6859f322-cb8b-4153-aba8-7df12dc0d6d2 CLINVAR:283219 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7a02d97-1bc3-4866-a5d4-7c09e7ab7436 CLINVAR:283219 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aed735c-7516-471a-94fb-3f9ae83ea5d8 CLINVAR:640911 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd572cff-188d-477b-bf79-e22cf52ffbf0 CLINVAR:640911 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def6fe0a-ccfd-4527-b625-014407d11c49 CAID:CA401363854 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e56a31b-e9a5-4faa-ac8a-ccb6895fd8e0 CAID:CA401363854 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 403676da-96ee-4e95-be3d-aeafc48c234a CLINVAR:370637 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7aea6ac-52e5-4b08-98ce-f29fa74925bb CLINVAR:370637 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a014549f-ca10-4bc8-9b6c-c56d0292002b CLINVAR:181210 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9efa790d-0fd1-4cdd-b6c5-8e73f212d136 CLINVAR:181210 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50b652ae-05de-4ff2-ab0f-012baa553544 CLINVAR:181236 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 295b6cda-f0d5-4240-a073-d84e384ed965 CLINVAR:181236 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e724eacd-cf54-4782-a72b-68d48deb2987 CLINVAR:181278 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 777f1b20-d5e0-4401-9a6b-5201a91f1355 CLINVAR:181278 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bca8c1d8-d704-4db2-bf71-792b57762d6e CLINVAR:181286 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a0aaf46-5aea-442f-a3ee-9f38c5d0ff03 CLINVAR:181286 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aaaceb3-cde9-4a9f-8440-f1ff4b014d95 CLINVAR:181293 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8410531d-702e-4d1f-969f-eaecd33c87c0 CLINVAR:181293 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40749128-af07-404e-acd4-527bc3fbec24 CLINVAR:181299 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf3ea156-9254-4079-9f5a-b0982bcf218d CLINVAR:181299 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7739e78-fc60-47cc-9c65-f9f7eb258a8d CLINVAR:181300 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1aaa774c-6951-4e2a-8cbd-329c86d27668 CLINVAR:181300 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 641b9e63-9a15-406c-aeeb-b2dfafe589d1 CLINVAR:181310 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1e91009-f2e5-41ef-b081-cd663fbd42a3 CLINVAR:181310 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c635bdfb-a501-48ab-86ed-f6efc14597f0 CLINVAR:181312 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d83cbb1c-af33-4a7d-bff5-1d0e46b1fd68 CLINVAR:181312 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 449a6dec-3f7e-46af-b88d-dd8e6d574f0a CLINVAR:181315 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1177614-c8e4-4576-9753-8daed92b78bb CLINVAR:181315 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb6a812-c96e-4ae0-b8c0-fb05e99cd921 CLINVAR:181330 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a0e6159-30cd-42c1-8d2c-b34f3a9cde3e CLINVAR:181330 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9d6f2de-1308-45b2-ad9c-bde89083e1d5 CLINVAR:36831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 303b5825-7b09-42ae-8b9e-7722d56e8d61 CLINVAR:36831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a48710f9-fd63-454e-bb2c-1e6465173e84 CLINVAR:1327611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1d1cf82-b17d-400b-a218-50e1a475cdcc CLINVAR:1327611 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 013118b7-c62f-4d5a-b06d-6abff8f90d4c CLINVAR:1327612 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8fbd155-4579-4d3b-bdf5-74e58f7dffce CLINVAR:1327612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42c9e157-4f68-4b9b-8fa4-5999b44a0829 CLINVAR:1327613 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db04223f-3998-4e6d-9f11-ec8412b9de67 CLINVAR:1327613 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7571560-c812-49c8-bc90-10e9cc5b543e CLINVAR:1327614 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ceb86d7f-5589-4da0-9f02-e859836d0e2f CLINVAR:1327614 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d927750-fd66-4b98-b3c6-ca9580316422 CLINVAR:1327615 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce127d24-5181-487b-9c63-7cbbd0e44f96 CLINVAR:1327615 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0956f569-bb17-4af0-ac57-927c4cb894ed CLINVAR:1327617 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c74d6c01-23e5-4c16-94ac-97228d10f3f6 CLINVAR:1327617 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb0c91dc-bdfa-404a-a4bd-9c9e99bc6cce CLINVAR:1327618 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d22785d0-dc4b-438a-8e03-138213411631 CLINVAR:1327618 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 248430fc-be1f-47ce-bb00-82c3e07c34df CLINVAR:1327619 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 811eca8d-3268-4141-9456-53f34ef9a255 CLINVAR:1327619 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57899239-9bbb-43ab-a866-ba8452200d5d CLINVAR:689846 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f578ca6-99df-4d56-8436-9d88686b5886 CLINVAR:689846 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e7b0234-52c7-4779-a810-2259ac5daf05 CLINVAR:693460 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37f75ba0-1f78-4d31-8087-7aa0e5a38bc5 CLINVAR:693460 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba62583a-7177-420c-a77b-7b463b890445 CLINVAR:692343 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5e4851a-23e2-42eb-8270-af8a60dc3182 CLINVAR:692343 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f768a137-4e1f-40ea-b27b-666741487a6e CLINVAR:1328511 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cd65d27-09da-488c-90fc-061b6ae48d56 CLINVAR:1328511 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd5a337-f4db-489d-a286-61195f107442 CLINVAR:1328512 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d911c991-56b6-49f2-93f6-e1b88737ad49 CLINVAR:1328512 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24215833-e453-4348-8f78-3b20a20cebde CLINVAR:693828 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d95525e0-f5bf-4157-b43b-164bb4404fcd CLINVAR:693828 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b174cad2-8a52-4314-b4ab-cbb27db7d4c4 CLINVAR:689941 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74baeb2f-1aea-4ab9-a538-495aa1db024c CLINVAR:689941 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c072cff-aa52-43a1-80f1-3565489831dc CLINVAR:102493 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen faa5316f-0492-4194-815c-c99d311f38b6 CLINVAR:102493 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 951c067e-2f2e-439a-9631-8f986f75513c CLINVAR:102487 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3709dec2-5450-49c9-8661-e9beb65615f9 CLINVAR:102487 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d98b386-cd5c-4286-8f80-308f8acc4ccc CLINVAR:690123 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96c46211-dea2-4e5e-8946-140f2f46ee92 CLINVAR:690123 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf044770-3158-46f7-ba06-f04cfa5c8e7c CLINVAR:102585 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 667b5165-f6a3-4e2e-83f7-27949ad8d8da CLINVAR:102585 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6dc8412-4edf-42ce-a8df-6762827c612a CLINVAR:102611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b853ca4e-845b-4594-b086-aaa79ff9e34e CLINVAR:102611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1f566e-5777-48d7-86c8-681f3abeefea CLINVAR:102776 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 873fe96f-cdd3-428e-bc80-b43347fbba04 CLINVAR:102776 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 125dc8e3-f246-42db-9f4b-967ef9baa28d CLINVAR:102785 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cbef2b1-98b7-4952-ae35-47572d5a00dc CLINVAR:102785 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70e1f1a0-8e2d-4285-bad1-be3335d9240c CAID:CA16020954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bff0fb2-01df-4590-9a4d-a6c7543d859d CAID:CA16020954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e89d6bc8-ba27-49dd-bf4e-faaa4c5dc20f CLINVAR:370982 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bf656a6-e30c-405a-a52f-22197ab2d356 CLINVAR:370982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c8e4a2-8423-4ca8-8a52-8c29c6d44b7a CLINVAR:102748 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4231bd86-8b73-4da9-985c-a0db2cd34090 CLINVAR:102748 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efade38f-8ea2-4cd0-8cab-971df92e56a6 CLINVAR:102807 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcb62361-5c34-472c-bd02-88f3598e52d5 CLINVAR:102807 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe0a329f-38ae-4ec4-96c5-3a6aa1c8a1f1 CLINVAR:133186 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e31671b-0a35-4879-a239-cefc1c3a668e CLINVAR:133186 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9628a4bc-e918-40a0-8b4a-58873cd73934 CLINVAR:133187 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b32c280-a4dc-48d2-8900-f758c1fb9828 CLINVAR:133187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a0f295a-1ea3-4153-b513-b66605691c0e CLINVAR:1330355 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd1c05ca-d62e-4815-8e6b-cddc771262bf CLINVAR:1330355 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d577d98-14ef-43b4-b97a-f30beaf28c30 CLINVAR:582065 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbad3775-9378-4606-a4e7-160ed433a769 CLINVAR:582065 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0c4af8f-66e7-41dd-873c-c34faa385c71 CLINVAR:161379 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 091d3313-7525-4ff5-9b4c-70e99e4dd754 CLINVAR:161379 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00853d7b-70de-4ccb-a16c-ac3dcafe0a3c CLINVAR:133194 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59d2e84d-49c7-495c-9455-718b85803b66 CLINVAR:133194 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e54c73a4-9190-45f5-8efc-18df825b9dcb CLINVAR:133195 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a67f820-4191-4b6b-9cdb-23c6f42050fa CLINVAR:133195 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca5cea7-6709-4c22-a850-d9d8e3d2c778 CLINVAR:133196 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64257594-017e-4919-a7b4-cc4141ecf93e CLINVAR:133196 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 768e64b9-b28e-4ccc-9715-8765305f5ffc CLINVAR:133197 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a04ea785-10ca-4bb1-8226-f14818975a86 CLINVAR:133197 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e3d58ef-e502-492a-92ca-fe39c4ba7f84 CLINVAR:133198 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42af12ac-0937-40c5-be0e-6f9728a46ad8 CLINVAR:133198 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f48773-63c2-4475-a74e-de15c4b9b546 CLINVAR:133201 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a926b6e9-5c01-4939-bd7c-dfbec975be57 CLINVAR:133201 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a6bdd0-e52f-45e4-a17a-d70974e8e13b CLINVAR:133208 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 481e5c4f-3727-4ad0-9374-7e7271567daa CLINVAR:133208 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ab2037b-94c9-4b81-8142-b3ae429421bd CLINVAR:1056224 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e5f5544-efc4-4fb8-baf4-37fc6833b41b CLINVAR:1056224 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a242bd27-9594-4c27-95ff-358b1c318582 CLINVAR:133211 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1f53489-8f3c-41df-a222-f2d369014e5e CLINVAR:133211 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebfc2e29-6bbe-4dca-a573-7c6b387d4161 CLINVAR:93291 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 764aa2ca-fbc4-43e3-bf4d-387838538077 CLINVAR:93291 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e075419-4189-45a9-a3d2-cd4c88a23a85 CLINVAR:654130 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea7b4d20-e298-49a5-978c-f1e6a467d1c2 CLINVAR:654130 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba92ad31-615c-469f-931b-bb0a494ff6e1 CLINVAR:1330356 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1603156-a7fa-4d27-a3f8-45d95c7df246 CLINVAR:1330356 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0abb780-79cf-4b19-bad2-b8d54b34dd9e CLINVAR:133212 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50082c2d-baa3-498c-9868-697f4dd33201 CLINVAR:133212 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd6ad288-84a8-4665-a1f8-da7e0d24f489 CLINVAR:1330358 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76ba55f7-308a-473b-9795-e2aa1e402e31 CLINVAR:1330358 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f9d33b9-3fe8-49c6-9579-3edbc15cfea6 CLINVAR:872586 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccf76fdb-6795-4923-a681-dbcaf7b5acd6 CLINVAR:872586 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05537301-bcb8-443c-b7ce-006385ef2226 CLINVAR:1330359 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d7ded28-7b37-4cae-8297-f4cbc5e81735 CLINVAR:1330359 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fbee4d6-b02d-48ae-969b-8db93859af23 CLINVAR:133217 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e18c1903-9db5-492e-b073-9c86037796c8 CLINVAR:133217 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 531d0afe-6a31-4e2c-947e-82f785d4b14d CLINVAR:1308515 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41338d0d-5776-4017-98d1-71301f2ac394 CLINVAR:1308515 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10112f78-d6e8-41e1-b553-a93a78008a32 CLINVAR:133218 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3b3dff9-619b-41e9-93a8-3c6080b0891a CLINVAR:133218 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa4e15f8-97a7-45b5-b27b-bef02988b2f7 CLINVAR:133219 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 707627a2-2d8d-40e2-a7d1-ef55e0afd1d1 CLINVAR:133219 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b98112-7fb2-427d-b7cf-cb8c72615d3f CLINVAR:133220 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 695b508b-5920-4be9-93e9-72c033acda61 CLINVAR:133220 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6773609b-8a33-40c1-89c0-20d9ef4343e6 CLINVAR:133221 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 035be725-c0bc-47bf-86b8-dc80ad2caae9 CLINVAR:133221 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dec3ae27-298c-41ac-a9b9-348683c28d4c CLINVAR:133061 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e073d074-a001-4a2c-97fd-724da64acae2 CLINVAR:133061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7335776b-8b36-486f-b9ed-3ced616b141e CLINVAR:133160 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b7d5761-8755-4476-b0a4-573801345f3b CLINVAR:133160 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d3fe38-0d5b-4ed7-ae7a-6ea2c414d312 CLINVAR:133226 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc227295-2c66-468c-98f7-d2755710df9b CLINVAR:133226 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a697a5-c256-4068-ab8a-de97d48c803a CLINVAR:1330360 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7019b29a-a182-4883-bfc3-5bbab04f5846 CLINVAR:1330360 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e696279-e1cf-4a01-aaa0-fe71d9371834 CLINVAR:133230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 814e8fe6-f648-4560-baf9-142a208e5c4f CLINVAR:133230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3315f652-2f59-48f3-b8de-8c02aa789dbb CLINVAR:133232 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41ed09a3-cf2a-4d7a-9d8a-a94f168b17b5 CLINVAR:133232 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afb5a874-4ff0-465e-bf6e-64ff975f3434 CLINVAR:1330361 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 606affd2-1bd5-4246-bdc6-a254323b3e51 CLINVAR:1330361 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2a8aaa6-2d87-4a57-af10-179547408773 CLINVAR:1330362 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44117d97-1a6f-4451-8296-b5f123fad7fb CLINVAR:1330362 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f21139-ab9e-4640-9520-2e999b0c682d CLINVAR:1330363 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64d0fac9-94dd-413c-94ad-caf75410553e CLINVAR:1330363 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beba3bde-17b2-42bb-9867-cc8b1bf56caa CLINVAR:544516 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82c40dd6-267e-4bf4-9b2d-ffee8cbb9049 CLINVAR:544516 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dccfb1f6-f295-4b9a-93d4-6e04458475dc CLINVAR:1330364 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e45f24e-5baa-4c5c-9f17-d8f80f6e6171 CLINVAR:1330364 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68851a54-6657-4770-90e3-9333c589b999 CLINVAR:133241 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c053a6b9-b4b6-4e3e-9c79-c9f4f21ff618 CLINVAR:133241 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f9494d-05a2-4a7c-90ac-495c783d907b CLINVAR:329090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef836850-411c-4a3b-8504-46fa3488d71e CLINVAR:329090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df2430ec-afd5-428b-a969-39b4047bd115 CLINVAR:1330365 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b645ef2-aeeb-4d53-b4fa-f1fdf2de1e2f CLINVAR:1330365 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f9f2a2-fc8e-483b-8cb9-8a5222117f3a CLINVAR:1010267 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df8689d3-7309-4de4-aee5-5d1dd27ed119 CLINVAR:1010267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83645840-7e01-4dc5-929a-b38fd0c1ff8f CLINVAR:1330366 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38493696-abc9-461a-ad09-e0087ffd7407 CLINVAR:1330366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc115dfc-3e7d-4f94-b25c-5889b39318ab CLINVAR:1330367 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1701c23f-39aa-4897-a0d7-5833bd7ec0f9 CLINVAR:1330367 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0491654c-b602-424f-8372-02e16be01f87 CLINVAR:1303276 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ff23125-6ea4-49fb-8057-3aaf3a3f8689 CLINVAR:1303276 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1095eea-08dd-4f9b-ae81-320b9144f64d CLINVAR:1330368 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17b84336-3c8e-4851-a6ba-81cc5fc3f626 CLINVAR:1330368 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9bd1a6-559d-4619-aff3-2c1f9cb1a698 CLINVAR:1330369 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f34884bb-72b1-464e-ad4b-cac594e16e23 CLINVAR:1330369 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42718dd5-9ea2-4b4f-98f4-2affdd40ceba CLINVAR:133070 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd959b5e-3c77-4711-9b43-bc27495dc5c5 CLINVAR:133070 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ba340eb-647d-44c3-bdd9-f27443d9ffc9 CLINVAR:590630 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66a867e2-7d9e-4fcf-a0e4-a95643d580c6 CLINVAR:590630 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b9d1ea-3c91-48a7-a202-4d4c5aed5362 CLINVAR:429750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 017edac1-e2e4-47d1-9c6a-ff0fdb95bbed CLINVAR:429750 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb54301-30b8-49ef-8a27-674bf0e6ab8d CAID:CA400029525 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47250363-0bb5-40dc-b7f5-684a28cacad8 CAID:CA400029525 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d107e1-0bde-4d17-83c9-d02b658283bf CAID:CA399790170 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c61f5fa-ebfa-470c-ad90-f285f2abee6c CAID:CA399790170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5db4a7a8-dcb4-431f-b6ff-f14a2db24778 CAID:CA915940727 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 639d6cad-96ce-44d6-90e1-16694dc20d32 CAID:CA915940727 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2345bfb0-bf32-4dd1-b1ef-333044a8634b CAID:CA400029121 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ae96f16-c216-49c9-8125-08ddfc31ec0c CAID:CA400029121 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fabcf05-1e1d-415b-9adb-a8638ff782a7 CAID:CA400025209 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6c20aea-b4f6-43a0-a222-dfce48643392 CAID:CA400025209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfe94b94-bbb2-400e-8977-72d93c72adaf CAID:CA915940728 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b40c0a96-3196-4e8a-abe1-94e04e6082b9 CAID:CA915940728 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1d3906c-28c9-438c-98dd-7353136ca81c CLINVAR:695455 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fd5be2b-824f-422f-9078-1dbc826178ff CLINVAR:695455 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00ea840f-bd53-4646-a442-a03f3f585b2e CAID:CA2499306877 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8bf145c-1860-43bf-b692-cdaf28a65a31 CAID:CA2499306877 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f79368df-1d58-4873-ac11-ea08d2d80682 CAID:CA399802112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 196d763b-314f-4f53-876d-a418f23c1266 CAID:CA399802112 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f5bcf7-ceac-414e-bdfa-3afea6501ce6 CLINVAR:1330311 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dace80a-bcd0-42eb-b647-2647a57032c0 CLINVAR:1330311 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de8b64d-4c9e-4928-914e-0e29ec43d21e CAID:CA915940726 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 298021c8-e9d7-4294-9030-12d17cea83ad CAID:CA915940726 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 232f099c-03c9-4f79-b051-59233c680235 CLINVAR:13565 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10fee27a-0146-4c1e-b21e-1d94e617efdf CLINVAR:13565 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d9d00f-05ac-490e-8dd3-a1a9a9d07ddf CAID:CA626684825 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26b94865-f006-4620-950d-424d0901eef0 CAID:CA626684825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2585885b-2792-405b-99da-003f93be6aa1 CAID:CA400028591 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bdd5f6a-c9fd-441f-a7df-ee528b0bfe2b CAID:CA400028591 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a230e3-8ab3-48e7-bb13-ebd73230ef7a CAID:CA915940291 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc319a25-f9f9-40f0-bb59-bd7f792b9e24 CAID:CA915940291 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76861fc4-6af3-424c-8028-80d7b2301f49 CAID:CA913012619 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c15a936-2b93-44c9-bbb9-a21f31f24441 CAID:CA913012619 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9fa4a4-df44-42da-8b74-18a5f25a845f CAID:CA399805570 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 053e5a5d-bc51-4da4-91e4-d016f9195b35 CAID:CA399805570 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17bc8ac6-c743-46d0-9a40-d67de2c30342 CAID:CA399802403 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 429dc73a-2154-4644-80c0-a2a050661275 CAID:CA399802403 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08b1a411-f946-4381-b667-c36f3420eb0c CAID:CA923726222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15dda41a-673b-4793-9294-3aa7b6377e47 CAID:CA923726222 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d6365e-a2d7-4a53-8e33-e9da7d0690b7 CAID:CA923726221 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2461bf95-2d5a-460c-9adf-4665d567f21b CAID:CA923726221 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d7828c-1ba9-4698-baf9-4a5f426b5c07 CAID:CA915940256 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 724c8992-5825-4f5b-ac56-e87489528c8b CAID:CA915940256 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbfe9b42-39e3-4ac4-a8e0-a28a5cc8f8c6 CAID:CA915940255 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ef6a3f7-17e0-42c1-8b47-6df1639561a9 CAID:CA915940255 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88153a6b-bba3-4a92-8be6-776ca26fd669 CAID:CA400032429 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0949f15-0c31-4415-97f6-07a86a1c91d8 CAID:CA400032429 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee29707d-a5ba-4014-a9d5-e0f39316b458 CLINVAR:13556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db5f2260-1bda-49b0-9e69-4eb0464b9530 CLINVAR:13556 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61eee1e-2c68-4115-816a-2704f7c4d446 CLINVAR:1330325 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab2aabf7-cf73-40c9-a747-c2d444c49b60 CLINVAR:1330325 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54a50373-5ee5-4220-88df-4cfc2881952a CLINVAR:1330326 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c49ad1f-17b0-4c79-89ee-8d8536e42fb9 CLINVAR:1330326 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a9bb6fd-e089-4080-a7ef-f517e67f9ab6 CLINVAR:1330327 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ac08ea6-8b84-4b72-b628-ad192cb0350d CLINVAR:1330327 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4acb6f0b-11a8-42db-99c1-020a1f622d24 CAID:CA399801004 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8efa27f0-d776-4e2a-ba7d-8fc8e0248538 CAID:CA399801004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a0b47a1-a4db-4afe-98a2-930698550b63 CAID:CA915940253 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a30861d-4b46-41c3-90aa-24c270f82b34 CAID:CA915940253 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 614a05ba-30ee-4a91-b30c-4332038e56cb CAID:CA400025098 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd2d4dfd-3a01-4d81-b14d-c69b115d008b CAID:CA400025098 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0195baa-b68d-469c-a1ef-7bf36385c3b0 CLINVAR:1330333 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen effaf609-7f79-41ad-9bd5-b9965550546f CLINVAR:1330333 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c4ab16e-15b0-466b-9c1e-67484d325b34 CAID:CA400032983 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a54af83-25ea-4283-9bb1-1e37a799ad97 CAID:CA400032983 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a5d8e95-c2b7-4ef8-a107-70428da804e9 CLINVAR:1330335 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad257030-f6df-4673-9f9b-8eb1c8a43de7 CLINVAR:1330335 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64951766-2ffe-4672-9c06-72d5c60a82ad CLINVAR:13562 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30f96c70-fd8f-4a5c-9833-55e8191d8ce9 CLINVAR:13562 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e6dadb-b5f6-4afe-b346-fd0603828e75 CAID:CA915940237 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f713588-1fd1-447a-afdb-fcd4dfdfaec6 CAID:CA915940237 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e4cbd4c-2dd3-4f20-ac10-d62cc441acdf CLINVAR:1330339 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d77ebee-3028-4f0c-958b-37b319d5b859 CLINVAR:1330339 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ad521db-d428-4693-a57c-8e3b0c7534f4 CAID:CA400021329 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4004e77e-ce73-4602-86a2-1273290c6e3c CAID:CA400021329 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027a3f08-e70e-46bc-be0e-4a444f044ecc CAID:CA915940309 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc242de0-891a-4d1c-a465-10116333b974 CAID:CA915940309 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8670e5e3-14a8-4f94-a800-eba720bb2111 CAID:CA399805691 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 139efbf2-cbb3-4f9a-93cf-4861045dbc97 CAID:CA399805691 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b6914d-8d4a-4796-a568-af0e78eab1c0 CLINVAR:1330343 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9210b37f-d481-479e-810f-2f4d89627605 CLINVAR:1330343 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ded5ebe4-44f1-49fd-b9f8-3a9ae100ddb0 CLINVAR:1330344 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff62ca80-e1af-4058-b391-02939ed1c473 CLINVAR:1330344 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9501e541-a72e-464f-bbf0-2468498d397e CLINVAR:1330345 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18558d79-46ed-444b-8d70-3040cf23aa8a CLINVAR:1330345 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 109bbbb8-47b1-4250-a785-f12de9b84d11 CAID:CA399805552 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9d48566-7615-40a4-859a-f924d03c260c CAID:CA399805552 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d1c8b78-77fc-4bb0-8459-f135f2f883c9 CAID:CA399796017 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8acf6012-42ab-41f6-9e71-d6bb95785db7 CAID:CA399796017 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6210a380-54e4-4286-96bb-22636f6def8a CLINVAR:1330348 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ca7c1a8-03f3-41b7-a3dc-57b35e219f81 CLINVAR:1330348 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f8fdac2-a10e-45f3-af5b-4763892abc38 CLINVAR:1330350 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76d476cd-e4ed-4b83-ba74-c37b77e16e46 CLINVAR:1330350 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95defe20-7f32-41dd-b761-5e1dc4285dbc CLINVAR:1330351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 688056df-f43a-4c71-901c-f7b30c76f753 CLINVAR:1330351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5afaa06a-82f7-41b3-a21f-b6e8d2fa77a6 CLINVAR:189776 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e2cf0a0-a606-4587-8abf-29ed3f891f6a CLINVAR:189776 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a4d7b05-f6f3-41eb-896d-03cc79ff3d65 CLINVAR:156661 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11c1a092-8a1e-48b5-97f1-04c728466c3a CLINVAR:156661 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4fb2c2a-23b5-4789-9157-759712adf8a6 CLINVAR:143700 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04286fd5-08f6-4224-91a9-681c65617405 CLINVAR:143700 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb02f78f-0cf8-4ba1-bace-ea12bfc63b8e CLINVAR:143563 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b51277fa-2722-4f30-af8b-e15e181143cf CLINVAR:143563 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d57699f-20e9-4ac3-b067-f373ff5f49e8 CLINVAR:143590 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d3c0bce-31b4-4890-bd1c-b3478aaa2287 CLINVAR:143590 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1aa6e34-ba7b-4a47-987d-d1c4a0d0eaf7 CLINVAR:143583 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e69da9e-4989-49a9-83ba-122049bad025 CLINVAR:143583 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d22560ee-a1f3-4008-8289-925d7b12517b CLINVAR:143579 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f08f1079-80c1-4c6f-b5af-1f58f9604818 CLINVAR:143579 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80cdad12-f988-49fb-a9aa-2133c9f4df3f CLINVAR:143564 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd6befe3-44b3-4cbb-b117-220258ff26d8 CLINVAR:143564 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4658788-aaa7-469d-8c18-c7d3bd3d36eb CLINVAR:143559 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4fcf2a3-8fb5-4e91-b35f-19fabad999ad CLINVAR:143559 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 824b7186-dd97-45f2-acd7-f7e1760acb9e CLINVAR:143552 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29c93987-530e-48d3-975c-b1d0a0d7df64 CLINVAR:143552 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef36c4b8-57fb-4639-b089-e55a2720cfdf CLINVAR:143546 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c87a8c0d-f0a6-4b98-8658-027d4233b1f5 CLINVAR:143546 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a8f9453-9dd6-4db5-8591-505f55dd0cdf CLINVAR:143541 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2f26e2d-fd4f-40f0-a218-5bd663bb0e47 CLINVAR:143541 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2bec9ab-7ad3-4480-8043-784f85dc45d2 CLINVAR:1334145 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10b5e2e9-c439-4f4d-bfec-9e9f0bf1f8f9 CLINVAR:1334145 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37cebabe-3366-45c6-b0f9-dd64b84d472c CLINVAR:1334147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf198262-c627-441c-bac6-09c83914e26c CLINVAR:1334147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d1c903d-e594-4214-9e8f-e5272741f466 CLINVAR:1173962 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b7a13c5-698b-4c0b-bc9a-f93ec6cbfc3b CLINVAR:1173962 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6faf13e-abf6-40e6-af99-0f276cc104de CLINVAR:1334148 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c0d9774-4b7c-4861-b225-97f8905aebae CLINVAR:1334148 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87566194-1a2a-442a-8f88-d67a2b5d1703 CLINVAR:1334149 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa700fc4-488d-42bf-8971-e370ef23b026 CLINVAR:1334149 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2a4586e-da71-4aa6-9fe8-663a875bb8f7 CLINVAR:805632 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8febc548-118c-4b18-86a0-c41052ef71b7 CLINVAR:805632 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6339db81-825b-4abc-9bda-7ac164105fc1 CLINVAR:586792 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd9a35c5-3eca-452c-986b-5f6c12bbc8c5 CLINVAR:586792 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4402f308-c901-4923-b205-d877ee2952c5 CLINVAR:36826 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9a835d3-3101-4ae6-afe0-329dbff93725 CLINVAR:36826 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc0e8c9-d16e-4b62-9d0c-29f9d43a2cec CLINVAR:420064 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 069563e3-c674-4865-ba4e-04e814eb3c3a CLINVAR:420064 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e29007-dff2-4857-857e-a03d338530d0 CLINVAR:1334142 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f34e1ed-c2ea-4b6d-a911-5bfcd2a4a032 CLINVAR:1334142 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e6a513-d532-4dab-b0d4-656a8a749443 CLINVAR:1334143 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba74f4f4-ccf0-41c4-b317-0d78cb53bd3b CLINVAR:1334143 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c76ec0f-6078-4da7-a30d-350fe3a3eb40 CLINVAR:1334144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aec25de3-013d-4594-bc39-fbb9775dbe4d CLINVAR:1334144 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8218a19d-5fe8-4a3d-849b-700397242368 CLINVAR:972754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 506a4fa8-8f0d-48c4-9322-3a622bdb47b5 CLINVAR:972754 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18678de2-05a7-479d-8a6e-700e2bdddecc CLINVAR:447499 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0a95168-2e8b-42e5-959e-09ae713762ee CLINVAR:447499 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94965abc-45b5-4727-a023-bf5048850d29 CLINVAR:435424 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a3df244-f728-43d2-92d5-da291e697658 CLINVAR:435424 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e58b467-1b5c-4b8c-aaa3-09860ba5197d CLINVAR:972814 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8be73eb-5a0a-4f5c-a0fa-c39a4c665f1f CLINVAR:972814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35904525-a661-4111-888b-60ffc3a6deb6 CLINVAR:805637 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fdc2f4b-05bf-48c8-9d88-d815f68430c3 CLINVAR:805637 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06357a6f-1876-4ac2-95dd-09cef0c68294 CLINVAR:129226 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 058fe1ea-e15b-480b-a5ef-3d7b455fccc5 CLINVAR:129226 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e457053f-a1ef-495e-935c-7bd0e46f399d CLINVAR:36796 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84dba737-4a71-4aee-a625-d4d02c61557c CLINVAR:36796 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68fe25f5-3621-4e26-8435-a0d265b1ef33 CLINVAR:435426 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 127c8993-11b4-4bfe-9cf6-52ca34fca0ef CLINVAR:435426 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3f79b32-c266-457c-bc3b-7a6fcbd86415 CLINVAR:36797 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c112983c-eaa9-4a40-a056-d66b1a2f9208 CLINVAR:36797 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecdef5ac-c64b-4047-8a79-231db374a1de CLINVAR:14928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb1e03b7-1ca7-4088-838c-eca136b3f5b3 CLINVAR:14928 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f815de8c-f511-4d80-8ade-2513118a381c CLINVAR:435427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d51b0d87-a3eb-4b92-928b-f32ef6a54536 CLINVAR:435427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5dbf853-a6bc-4ae9-bdce-6282978a18d6 CLINVAR:489311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae615e5b-ecff-4a6b-93d5-30593b4c625a CLINVAR:489311 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5bfca8c-73bf-4a9f-8279-cb85135c9dcf CLINVAR:449404 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b300e956-d24f-41a5-a80e-24ca81bbc480 CLINVAR:449404 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c849954-9d5b-4848-9f9f-a70f21ca9655 CLINVAR:14947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b611a6a8-bfe8-4a42-9471-ed3809a9ae90 CLINVAR:14947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05561160-72b6-41e7-8a10-feb1e08582a2 CLINVAR:156667 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afba2ebf-4a37-4f3f-b0d7-13304b2c05be CLINVAR:156667 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa8c48a-26c9-4bb0-a73a-b00f8206ca3e CLINVAR:440546 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 245354a5-1aea-4d64-9e6c-5805d3f32cc6 CLINVAR:440546 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27a2d350-32d6-4a5c-8b93-d8ebccdf55a0 CLINVAR:440552 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 747c4f70-946d-438a-bc7f-f842a4ffbbb7 CLINVAR:440552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cefc0d2d-2d9e-4ec9-a4c3-66e00ff62607 CLINVAR:161266 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74cb4f8b-84e8-42ff-92b1-3a18670b7e0f CLINVAR:161266 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92ff07c-c274-4d0d-b799-ba83c8901be2 CLINVAR:251213 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3d35537-9edf-4e16-bb7c-fefcf05a7804 CLINVAR:251213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46a8579a-bf5c-44e4-8608-c36b347859d6 CLINVAR:251340 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0f9a365-7fcb-465c-bbef-0b693c9aa1b0 CLINVAR:251340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6af7a902-3914-4998-a7ad-0ee435d52b2f CLINVAR:430763 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60d0f340-8f79-49a3-8c64-eaddc6b365ea CLINVAR:430763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e61f5bf4-3141-433b-98a4-f4a6e23c5d7b CLINVAR:251471 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eea9ec6b-46b7-4a98-bd35-16f474a63d5d CLINVAR:251471 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff66d8e-cf90-439f-9767-466726ef1f7a CLINVAR:631358 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a9734d2-fcd9-4b6b-b7f0-6132b94303a4 CLINVAR:631358 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f0ab2ad-810e-4008-9bca-3e08efe42d71 CLINVAR:252137 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f15ca45-3a12-45bd-b2ad-63d041676315 CLINVAR:252137 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69511a9a-3eec-4e34-af95-604fa2317748 CLINVAR:161277 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d0ec325-9f70-4070-8eec-5410e365a6fd CLINVAR:161277 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf6fded-49b0-47de-94eb-63e428406a5e CLINVAR:373430 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f05aa58e-e350-4068-a11c-5f35c8d8e4aa CLINVAR:373430 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1efe3987-0448-4397-8a4b-d267af5af194 CLINVAR:251739 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46e3c80c-4e3f-45f8-81d8-4fff76e5e442 CLINVAR:251739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dca5f05-4d9a-4d87-8003-40e25f65524e CLINVAR:251740 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3a56ff3-52cc-42a3-927e-f07864de207d CLINVAR:251740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96004665-64e0-4fa0-99fd-5d08a3f18693 CLINVAR:431524 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21e5544b-04a6-4736-9326-e878d4e6673c CLINVAR:431524 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac060c2-b24a-4c4d-9fb5-f8dfbe8fa663 CLINVAR:226313 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b56da30-91f0-48c1-bd53-efa9d943648a CLINVAR:226313 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 651a35c4-2c2e-4da6-a17a-c43da941c3d4 CLINVAR:251107 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba289aa6-0498-4405-b0d0-9311ab275adc CLINVAR:251107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1daaa2f-1928-4dd7-a4c5-56e0c2929e40 CAID:CA405685492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ae32145-66f6-43a2-a128-68edd20b730f CAID:CA405685492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e6f2fe-82ad-4843-9274-e85cb4e4002b CLINVAR:1330371 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 633af2d8-0a62-43c9-9aa5-2a5c97e9c845 CLINVAR:1330371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa9c3926-a862-45ce-a93a-4745c0b237d7 CLINVAR:133100 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cd34d04-4d51-49c2-a458-818b41c2ad07 CLINVAR:133100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen defb830c-6a2a-4ab5-8829-15ea377c495c CLINVAR:65986 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de7cfd67-ba20-4209-9871-0307e92505e9 CLINVAR:65986 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58f27f70-7010-42db-81d4-80ad002980c4 CLINVAR:1330372 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a964e140-c30b-432f-96ee-b2202154fe86 CLINVAR:1330372 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a47a8c-e2f4-4009-b747-8d563dfd82d1 CLINVAR:161366 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3bd97407-6e95-4ac4-976f-24f604cbb5b8 CLINVAR:161366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c249b4-32c5-4a24-842d-cf5eec3cf6fc CLINVAR:133164 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07900eb8-9040-49d8-ba22-f889e551d7d4 CLINVAR:133164 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 570bb054-0cd9-4bb9-b501-fa8d68bb4d50 CLINVAR:12984 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1aa61746-0bae-4bb0-886c-793ef0d6dc83 CLINVAR:12984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1bd5223-c4e3-40c2-a44e-6d9c2cd9007b CLINVAR:374083 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ea9abfb-cb84-43d6-9ac1-b42cb7b92776 CLINVAR:374083 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 715d7fa9-77ea-4079-9a82-551c8d7e2aca CLINVAR:12982 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48f02e60-0720-4bfb-b57b-c472259fd8fd CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47c0b5f6-a861-406c-8ef1-e34ef6fe3a3c CLINVAR:159865 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de09c048-c304-44b3-92fc-b26474b633a6 CLINVAR:159865 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f4c0032-863b-4dc4-9a80-137a50bf4170 CLINVAR:329095 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0e948ec-6e46-47f8-8641-9ec53263c4fd CLINVAR:329095 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3104dfd-2722-4692-9d32-9448d2bdde02 CLINVAR:12972 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19f05c00-caaa-4462-8126-530d07d42d61 CLINVAR:12972 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 681a0906-9687-49e0-91af-88fbdca9da07 CLINVAR:188773 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb06e448-79e7-45d3-a5ca-2473ffb91042 CLINVAR:188773 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0adb34a-890b-47b1-b318-800a88e79803 CLINVAR:371126 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd685851-b5cc-4326-a1f4-5dd867c81a71 CLINVAR:371126 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f18411e5-0ec8-42cd-8716-4670095a114a CLINVAR:933520 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d52cd84b-8030-4585-ac1c-6930e24ad194 CLINVAR:933520 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1600fd47-134c-4128-881b-9af4739c4e8c CAID:CA401360532 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85ed5159-f992-40c0-a2c5-eaaaac2cdc18 CAID:CA401360532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635b6823-fd30-4d17-9766-b5213f5f575d CLINVAR:12977 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c9ab6f2-f5bf-483d-a091-235e0e87b6ae CLINVAR:12977 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c0ae690-dc10-44bc-92c3-ec89499dbc1b CLINVAR:12971 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 423a60b7-b39b-4384-b29f-42f0c1781545 CLINVAR:12971 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 450eed15-c5d2-47f6-95ed-418d091387e8 CAID:CA399805999 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 354de502-823c-4ce8-8df1-bc7a2ebcce72 CAID:CA399805999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e01f9b-8cd1-4c8f-991e-276e65471d56 CLINVAR:1342944 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d69f63d8-88cc-4abe-acb4-829345818945 CLINVAR:1342944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4014861f-ac93-412d-9e5d-0d3b95e223e9 CLINVAR:447502 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b8138d8-34e2-44dc-a0da-61ee13ea6865 CLINVAR:447502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b00ded-1a13-492d-89ad-d1b4dad528f5 CLINVAR:251582 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 585aa0af-272d-49ec-89f9-d220f3bccaa5 CLINVAR:251582 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69bd043b-e5de-4bbd-8c40-409f3e1ec17a CLINVAR:251812 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0275def-665f-4070-9fdb-28ae3ec93d82 CLINVAR:251812 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8970521-19bb-4135-ad63-4963967d2e96 CLINVAR:548076 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a881a0fd-42b4-4b48-bea0-50a2387a44cf CLINVAR:548076 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c4612b9-389f-4b43-9b51-3d40b663e296 CLINVAR:440642 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8825c96f-e8a9-437d-b3b8-0051139e714f CLINVAR:440642 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f68e450-45f7-40a1-ba72-e704bb1a53b5 CLINVAR:375840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 345e340a-3f88-434b-80cd-71ce3f7bcbd9 CLINVAR:375840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c888128f-6a5a-4b87-87bd-d595bfc31ea8 CLINVAR:963080 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2c51923-daaf-4726-a830-b8e904d6d812 CLINVAR:963080 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18b3586-b917-49f4-b1a2-afdda878523b CLINVAR:183126 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba7d9579-6183-4d52-886e-c885ac5f4eea CLINVAR:183126 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c02566-e165-4050-8e38-724d98b2fb70 CLINVAR:252029 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d42efb00-50ce-4574-b1cd-afd43a4f3071 CLINVAR:252029 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41853951-f7ab-45b7-a09e-a880f6b7f7b4 CLINVAR:1342952 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4d2a277-e7aa-4118-b7fc-3fc428da1640 CLINVAR:1342952 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9796b014-94b9-4e2b-9f93-748d1307ffdf CLINVAR:1342953 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df8a4541-ff9f-4062-9a90-0eacdae10440 CLINVAR:1342953 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad77c25-10b7-4a30-af84-375769fdf19f CLINVAR:1342954 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6514e14-c40b-4f62-a815-6d7cbf21a7e1 CLINVAR:1342954 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5beabbf1-3794-4109-8b75-7b715fa43057 CLINVAR:1342955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62c480a4-3dc7-40e2-85b9-a6af36e3fcf3 CLINVAR:1342955 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8230a4-9118-4d04-8a5e-071430579a15 CLINVAR:1342956 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30289aec-0746-492d-bc02-5c2bf4b8fab4 CLINVAR:1342956 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef6ced26-3c48-4841-8696-0f9ea3202bfd CLINVAR:102812 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8c3a23e-02c4-4b78-8b36-a7e5127601f9 CLINVAR:102812 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44ff4322-026f-4abd-a218-922db9c058c2 CLINVAR:102887 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73ca2064-0bd6-48cb-b427-a04c7cca610e CLINVAR:102887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee1c8cc3-c97b-428d-8b44-4857f5199780 CAID:CA386954870 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e14d4000-731a-437b-b5dc-93309c41f6bb CAID:CA386954870 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed74c161-2f06-4417-bc6c-e1f02522666b CLINVAR:1342958 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 988d8c80-87f5-4cff-8d0e-c40d6bd3c993 CLINVAR:1342958 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de14b2ea-0c0c-4938-b383-b94060deeca0 CAID:CA16020959 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c82a4230-be49-40e8-98cc-30e1b5f89dbe CAID:CA16020959 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d0d75f-8068-4ee7-8304-0fe7a209e0f0 CLINVAR:102923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3f812bf-1723-4f88-9259-96716fad01fe CLINVAR:102923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373dda31-4ee0-41e9-ae8b-7b719c56e9ee CLINVAR:102862 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7fc6b3e4-e98d-417c-badb-cc0b5c59f043 CLINVAR:102862 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a002a4-43ed-467e-a0a3-1aaab0511cf0 CAID:CA16020979 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39afa966-9fc9-40f2-91e3-28a25f4b9eb0 CAID:CA16020979 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a61b7b-af74-449b-ac19-b3747a8e3129 CLINVAR:102468 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2518bfd-8289-46bc-b565-202d5ec69d36 CLINVAR:102468 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea427bdd-6c2f-48f7-afdf-86eb4559648b CLINVAR:102790 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fc482a7-229d-4803-b54a-de19e79c3be7 CLINVAR:102790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03729f3d-0f23-4837-ad59-5b91d6addb07 CLINVAR:102791 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6c9f4f8-74bc-4cf7-b398-5e1e1f05841e CLINVAR:102791 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9893749f-6c5a-44bc-83cf-da49bf40d264 CLINVAR:102801 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2516333-99e7-4bc9-ae74-4d621cb811af CLINVAR:102801 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f44bb978-2b5a-44cc-9ad4-abaa0828feea CLINVAR:102802 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2b3eb3f-5de7-4c1b-8725-6591b5dee38b CLINVAR:102802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d384b0-24ce-4433-b094-3d75bee8fc0e CLINVAR:102809 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b795e504-9a2e-4ca2-996d-8a362ea624f2 CLINVAR:102809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbc2ccf6-6832-427b-b654-92f68788e2a7 CLINVAR:1342195 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a239542-33b8-439f-92ec-08d545f9547c CLINVAR:1342195 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf70b1f-954f-4b50-8bdd-2b6fd8f138a8 CLINVAR:1342208 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 980d0780-8fa0-4303-800d-5c4358e7314c CLINVAR:1342208 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf502b2-5131-48b0-bbb2-b0144a7ca5ba CLINVAR:1342209 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9fd577f-fa55-4288-b83d-3e3c4944ffc6 CLINVAR:1342209 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82ef3094-b3fd-41e2-acd9-3f3a8f7bd998 CLINVAR:7959 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5fb465d9-faf5-4053-aab6-8a25e00e5f2d CLINVAR:7959 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aed68b5-d389-45bc-9651-ada5ab595f12 CLINVAR:1342210 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86d92baf-d3e6-4571-9787-1239dc1ba93b CLINVAR:1342210 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 047911ff-2d22-431b-986e-b04ae502da53 CLINVAR:1342196 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c12670f5-7520-470d-90c1-2c4c87015517 CLINVAR:1342196 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 956a2e48-8ae8-4584-8c30-361eda43c1b3 CLINVAR:7960 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0c12e8a-6153-47b1-8c99-7a71202535a5 CLINVAR:7960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31844a14-0f8b-478d-8cde-4ccb12e8ff7b CLINVAR:1342197 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a37b7bc4-5466-49d3-8d2e-86d76f2f8e85 CLINVAR:1342197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64e75fbf-b643-4203-8eeb-c7481e454f4d CLINVAR:1342198 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1889ef1-99d3-4644-9883-4650acf55254 CLINVAR:1342198 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a60b29f8-5046-4f17-87f0-2c7a16dd2578 CLINVAR:1342199 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c80e21b-6c67-416f-8021-3bd5cf81cc06 CLINVAR:1342199 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e741c55-9df3-45c9-a664-53f4287a6a48 CLINVAR:1342200 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ae4b496-ec3c-42a4-b89f-943582964d07 CLINVAR:1342200 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2057d2eb-d4b7-4abe-bdc2-c6de736f37fb CLINVAR:7947 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac4a8135-c6e6-43c8-89ea-bc119df1b87e CLINVAR:7947 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b597dce-64ec-4e99-92ec-70e8345b7238 CLINVAR:1342201 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa8c6f6f-9636-4d05-96ab-3d022ddeb3e2 CLINVAR:1342201 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6014d25c-212a-4b39-bae0-fb90eded52db CLINVAR:1342202 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83abfdb6-9347-48a7-986c-54b59210ea7c CLINVAR:1342202 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1176a7a-6cc0-46eb-a84c-1288a8d20010 CLINVAR:1342203 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen faa212bc-3a0a-4610-bbd9-3a58f2c55b67 CLINVAR:1342203 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91df393-0377-4eb1-be3f-c6e605d3ace4 CLINVAR:1342204 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48797ac0-6add-4758-aa20-1062e7b004ce CLINVAR:1342204 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8d49189-ec6b-4117-8365-30d93394b8c2 CLINVAR:1342205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2c568ee-7776-42e1-bdaf-c3c0b9c8742c CLINVAR:1342205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3f81ccc-621f-48e9-abf0-097940e39629 CLINVAR:1342206 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2752849b-f91d-4d54-a637-cc92c39fe650 CLINVAR:1342206 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5e60843-e45e-4a46-b7e4-e8e11577e008 CLINVAR:1342207 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15630a0f-4a0a-4be7-a4c7-6894159322b1 CLINVAR:1342207 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6006460-5573-48f1-93aa-eaa3d07234bb CLINVAR:1076425 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a796952-d28f-4698-bf06-62e51a0e2eb1 CLINVAR:1076425 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69511784-02b4-4c18-ba8f-01b5d92e382b CLINVAR:617952 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e10f13f0-9a3e-4095-b206-8082560f8ef5 CLINVAR:617952 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d31a65-34c5-41e8-b1ff-9deb2436903a CLINVAR:447493 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93682d1a-f9b3-41f9-a680-9861ab7498b2 CLINVAR:447493 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 260bac0d-5d86-4e92-a9e4-b79ba5774d68 CLINVAR:1342945 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd868243-e692-4670-9d0d-33ae6732bcd7 CLINVAR:1342945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ced16f4-6737-451e-825e-2cb1cff5649d CLINVAR:189172 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ad084ec-f6db-4c46-ad48-94431f77b1bb CLINVAR:189172 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d086304e-e23f-4fe9-87a6-dfb68e345dcb CLINVAR:558634 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d65abae1-dc10-4a6e-a2e1-74e03b1e3412 CLINVAR:558634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 761c292d-42b2-41f2-9c94-3a3ba1fd678f CLINVAR:558604 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4fdd072-978f-4f0b-86ec-43e06ca56bf3 CLINVAR:558604 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a13e9293-df04-4786-88c2-e8cd9f4fbf9b CLINVAR:1342946 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc1b81bc-30b2-47e4-a982-40253da433fd CLINVAR:1342946 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d4c69a-2c9d-456e-aa97-6a45194c2568 CLINVAR:1342947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a8390ef-72d0-459a-b1a2-600ec4236679 CLINVAR:1342947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771af1f1-2c2b-4ebc-b548-73d33c18280b CLINVAR:307454 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27d0c316-972a-4f50-9431-03931ba9af20 CLINVAR:307454 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa46a52-ec25-4d64-bd32-dae83af5c324 CLINVAR:1342948 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8118b4d2-0f27-41aa-ad5c-33ab4417f1b5 CLINVAR:1342948 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e854e7ed-76b7-40a3-b623-40a3d6152620 CLINVAR:36814 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8066cdc6-c53b-4d5a-aea9-ed99914e0c38 CLINVAR:36814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56cdac7a-a3f9-4de1-9d55-94e569b2c538 CLINVAR:502525 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe3da9e5-e462-4b9b-ba25-9082321b0c79 CLINVAR:502525 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b603d7-1b34-40d5-9f88-e24cb7aadcf6 CLINVAR:1342949 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 663ee271-3507-4509-ad45-5931b418f7dd CLINVAR:1342949 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dbb653d-8017-4871-9e2f-99eb26ab2b8a CLINVAR:1342950 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9887843-6da7-4e85-b0bb-8d9bcad20acc CLINVAR:1342950 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16f7ce96-010a-49f1-8c85-8f0a35cc2b5e CLINVAR:1342951 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b0a3ecc-ab01-49a7-8f57-7cdb2b55221f CLINVAR:1342951 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a294c71d-63b5-4059-97db-05436cac0066 CLINVAR:1342967 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5dfc4a7-bbe6-4e95-8155-bb0207ad0fc8 CLINVAR:1342967 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e5ecd9-5234-4702-b8e3-0a45d3002953 CLINVAR:1342968 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cea009ed-475e-4b55-bc68-076b32f7f9e6 CLINVAR:1342968 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17555d7f-10b4-4981-9864-f660c3cca27b CLINVAR:1342969 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97e8f210-0794-48b6-81de-df487217dcea CLINVAR:1342969 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b9ee94c-00bd-45af-90b8-cd1962a43e9c CLINVAR:1342962 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae76ffb9-77fc-430b-80c1-b226ff6d14c2 CLINVAR:1342962 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55faaf44-64b1-4a2a-b417-834c5f843184 CLINVAR:1342963 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 070a25cb-b530-41b6-8689-585d0b49c289 CLINVAR:1342963 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99e54808-1b85-45b0-88d0-30bdd33bf5a6 CLINVAR:7949 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66adcc17-9a5d-4eba-af23-c5d16cef265f CLINVAR:7949 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73293b07-9abf-4462-89cf-c5e80b2c87ba CLINVAR:7948 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a9dfbef-8e73-419f-b6a5-87280c793423 CLINVAR:7948 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9981196-270d-49a8-96f7-e5a9b2ad62b7 CLINVAR:7961 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a422d34-c69d-49b8-b7f0-3d9819e7670f CLINVAR:7961 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c52c61c0-7e7d-45ef-a308-208040021ef4 CLINVAR:1342964 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77e8a747-df08-4f20-bfda-201461739dad CLINVAR:1342964 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ae2020-61f6-4d19-971a-9f840559c63c CLINVAR:1342965 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8d6b45f-8608-4d17-b31d-58a2343a4800 CLINVAR:1342965 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e808b4e2-b3fd-4226-9254-fdfccec594d8 CLINVAR:1342966 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ae8c642-e201-4954-a3f7-ec368b583d9d CLINVAR:1342966 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a198096-a473-487c-a530-2474a6784fdf CLINVAR:7946 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6268d5e-1a21-4f0d-b316-f6fc379db102 CLINVAR:7946 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad25a50-e3db-41c6-9955-796e6ba01805 CAID:CA397726277 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 037728aa-68de-4d1b-a9e2-154b45192ebb CAID:CA397726277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad83738d-6baa-4be0-93e7-9b118c142740 CLINVAR:554491 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1147d29-c5da-442d-83dc-2bef9cc6435a CLINVAR:554491 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09c56992-55f9-4fc1-b317-2d8966168dd5 CLINVAR:189159 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e230ffd-f68e-4a0c-9fb2-a336993ed6fb CLINVAR:189159 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 175b5abb-8972-48f0-b40f-ec8b2acf63e1 CLINVAR:474900 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23d9e56a-f1b4-4f97-901f-a2102b256fab CLINVAR:474900 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 903fe19a-b8dd-4faf-82ba-7ed0c026195e CAID:CA624861219 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 230519b1-9ea9-4683-8bea-862922750c27 CAID:CA624861219 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95dd39d5-bf21-4f0a-aca8-0574a2f2789b CAID:CA397723028 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dced23b-2b23-442b-bbb9-a47d2b20e79c CAID:CA397723028 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75521e58-ead2-4ac8-8675-2871bfc763ea CLINVAR:141522 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f970c5a3-3df9-426d-a5d6-33731d7d04cb CLINVAR:141522 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05db0add-ca51-473f-b183-0c02f5ef46c4 CLINVAR:453341 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcf09c89-0851-42d1-a567-1875a7d8bc3a CLINVAR:453341 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed1af463-95db-4aca-8a29-df410a510834 CLINVAR:583716 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 149647ee-ccc8-42ff-9ffa-ae0d9242862f CLINVAR:583716 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7461b0b-0c05-45c4-8fdb-3343e9a6b2bb CLINVAR:453461 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64c8c9c6-d561-44dc-9379-fdc65dab09a1 CLINVAR:453461 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be46cfe2-262d-445e-bd5b-573c8151bd5d CLINVAR:231535 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee1d0ee2-8de6-4baa-b502-db9bb8d9bec4 CLINVAR:231535 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c095146b-ad8a-4ffa-8fb7-6d9c6d64c93e CLINVAR:3018 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b81164d-d403-4291-911b-ff3e254556b2 CLINVAR:3018 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 411eae8f-144b-40be-8786-31b608091465 CLINVAR:3033 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c8106fc-e649-4f00-b059-7ff362949bf8 CLINVAR:3033 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a744af16-d4c7-4d81-bf89-dc659f51b830 CLINVAR:818362 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 629258f1-166f-4bbc-8b74-7f300e9e0f46 CLINVAR:818362 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f50a42d3-aa50-444b-98d8-9434b15766da CLINVAR:140818 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54e79714-c4cd-497e-8971-b28b78974ce7 CLINVAR:140818 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07c1d830-4739-4b01-b1ec-4670746d428f CLINVAR:407718 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89d5c974-d4c9-4e66-a848-aa18aea864ad CLINVAR:407718 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4eeb40-13b8-4255-95e1-ef7f772f5b55 CLINVAR:929198 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c462b4c-2581-40be-90f3-05ab765f649a CLINVAR:929198 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e00559c6-201e-47c5-8453-93e5c7b1f6d7 CLINVAR:220555 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a0bd529-9707-4ef2-a069-d4550c22c914 CLINVAR:220555 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 761ba560-0be6-4963-b5ed-79dde03c4bac CLINVAR:186558 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d43e8a1-e95c-4941-9572-45d0b581a1db CLINVAR:186558 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5dee2ef-2d06-429a-b0ff-307263a5048e CLINVAR:231842 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ecca123-6205-4996-a34b-1db178b34182 CLINVAR:231842 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace033ef-ac36-4dec-ae19-a6e0ec8c46e1 CLINVAR:490737 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10635f7f-cddd-4093-9d96-33fd3055629b CLINVAR:490737 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c790596-f72f-4c15-a47c-e5f024738cf7 CLINVAR:3023 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 619a4067-a894-4217-9a49-9b642f4457e7 CLINVAR:3023 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4823812b-db2a-47e3-b5ec-4de3c2ee69a4 CLINVAR:133641 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccc82b1c-48a3-42ca-a504-575c2058bc85 CLINVAR:133641 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a0de888-0703-4288-a195-fd853576c09e CLINVAR:420799 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 378d4ef4-0090-408d-a36a-8e19fd800a24 CLINVAR:420799 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4e5645c-874c-4882-9d43-b2ab85f5d951 CLINVAR:187275 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a57bbaeb-b833-4e1f-b37e-ec7e03e78ccc CLINVAR:187275 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2eb2643-2e40-470b-a439-fbfe6aefe6b7 CLINVAR:141289 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae095e42-066b-44de-ab8e-0f6bed54baf0 CLINVAR:141289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 181a326c-9fe5-4a5c-98e3-34b7d7f5e5c7 CLINVAR:3029 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee9e6c2d-0f2a-4726-95e4-61191b858cc3 CLINVAR:3029 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 209b9b90-b116-418b-8d5d-3187ec0a506c CAID:CA16020825 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c79e06c-3077-43e6-bcf6-d8378fb4ec9c CAID:CA16020825 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd3588de-a001-44ab-bc14-61b93589acae CLINVAR:102534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 665a51fd-5ae6-4f0b-b656-a90aec6b6e2e CLINVAR:102534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a3ef59-24ae-4996-9e7d-ede8b69d0b2e CAID:CA916084428 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 533128a0-12e3-4d19-ada2-030349e5565e CAID:CA916084428 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db8f71e4-5b6b-4dd7-9233-394f922afccd CAID:CA645372267 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6c620e4-7ff9-478e-974a-24c258b56e58 CAID:CA645372267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b231fa5-b924-45ee-9495-68ea800e8018 CLINVAR:102820 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09f264cc-1d3b-4b42-a2b7-6eadcd1e7171 CLINVAR:102820 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffd27950-a447-4a0f-905b-42030cee748c CLINVAR:102813 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53f10413-e77c-4e2e-8d15-1d4b5d386b61 CLINVAR:102813 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db3ba28-9e98-4979-8995-f2a978b4a645 CLINVAR:102822 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d47faf72-b0cd-4a35-aef7-45b1c23d94cc CLINVAR:102822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c550cbb9-9226-4da8-b9dd-bc7cfeed4ad0 CLINVAR:102830 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dfac20e-d035-4491-8e18-4bfe8641a571 CLINVAR:102830 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 815d7ee1-301f-4944-9f07-9f5ee6be016f CLINVAR:1693230 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 517961ac-f4ae-44e6-9d2f-24cac3e773e0 CLINVAR:1693230 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61b3200e-da30-49ee-a69f-de6f020fa4fa CAID:CA16020845 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01034e2a-0bb6-4449-abca-2e2a3d0ac16b CAID:CA16020845 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac062153-dc83-44a5-b08d-36926bfeb6de CLINVAR:650581 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8a406c3-accc-40ef-80ee-18fbda5f57a7 CLINVAR:650581 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c4f766-5db9-4c9a-aa74-d151f4d59fc8 CLINVAR:453367 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c508460e-a82b-4009-a745-daa129d9ec0b CLINVAR:453367 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8fdd9b5-5c64-4808-a874-3ba403375c8b CLINVAR:449521 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bebf673d-ced3-4be0-86ad-3145cfcdf078 CLINVAR:449521 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d222606d-9a65-4402-b0c3-59db4ee6036c CLINVAR:562372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 299a1415-24e8-4fdf-a2a1-c4d01078bd30 CLINVAR:562372 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e24dc45-acfe-48e4-980e-a7b7e168df7e CLINVAR:40153 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c0e3abf-7bb9-4831-b946-38bdccc2a20d CLINVAR:40153 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 309c3b81-bef8-48bd-8933-a14a80287fc9 CLINVAR:9650 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e24360e9-48cb-48cf-8737-acdc8ebe7239 CLINVAR:9650 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 011943ad-ca6e-454e-a713-b97900912c47 CLINVAR:9645 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1e43191-80d9-42de-b516-0647ef011c1a CLINVAR:9645 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5dfa47-7c77-4bf8-bae6-58d7c2656a8b CLINVAR:9733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da9624b4-776d-4ebc-a522-f2436025205e CLINVAR:9733 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ed68cb-7c19-452e-8810-b0676d4bb5d8 CLINVAR:65519 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2995c851-7df8-4718-aa8d-14b9b908fa45 CLINVAR:65519 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4fca292-e69c-4eb5-bd83-d3189584fbab CLINVAR:9736 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c8baeaf-eaff-41df-8cab-196f92235254 CLINVAR:9736 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd9df52-3e45-4c7c-9af2-3088f0394449 CLINVAR:1675057 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ec5b4b2-1e5f-4450-8f94-ef35e29ea599 CLINVAR:1675057 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f992b74-2179-4405-93e6-5ee9b6c89c66 CLINVAR:1338407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44a69549-0147-4575-96c3-de1a697dd09e CLINVAR:1338407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a5187b6-496e-4f9e-b850-5160bb6fc077 CAID:CA386952304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0c67855-110b-4459-90f0-4e8594330be5 CAID:CA386952304 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14cb353d-b750-4e8a-b2e4-ab44aa3058ff CLINVAR:994546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34179c78-fc0b-4a9f-827b-b8069197bf6d CLINVAR:994546 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3224b99-1098-4911-85ef-a3a18ffbf89b CLINVAR:1675061 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84762239-7561-416e-abd7-1877ddc9cfdc CLINVAR:1675061 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a501c68a-715f-4380-9e2f-b782eb65e050 CLINVAR:1675062 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d6c460e-0427-4ec3-a75c-4e8c07ea7b43 CLINVAR:1675062 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13db8e29-0592-4d24-8ef2-3a4a7c97d487 CLINVAR:1675063 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9723d6b7-23f6-4def-b9c2-2f8f8a3d8be2 CLINVAR:1675063 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd4c8b2-085a-47e5-a3f7-8b1b696812d7 CLINVAR:1675049 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10e23333-c9e8-4ee1-8f2a-bb57e4fb0e09 CLINVAR:1675049 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da27580-fe18-42b7-bda4-fa2f092e5952 CLINVAR:435422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2f5c6f1-cc50-4fae-b7cd-29bcc94bf57d CLINVAR:435422 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ede4dac-e40b-4001-b416-afa09cd4c72c CLINVAR:12976 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63bced04-cf28-450c-b51f-7379618ef8a3 CLINVAR:12976 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75367530-f7c5-4d94-ae81-760d4105225a CLINVAR:12967 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e39443f-8e98-4942-8530-c1d15cbd90d1 CLINVAR:12967 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba28b419-eef2-4d9d-aa46-280545b2501c CLINVAR:133029 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df1618db-e96e-44f5-880f-dcad5f6203c5 CLINVAR:133029 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87c7491-eff7-44c0-8246-e4caa2ab4857 CLINVAR:133106 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c53a895f-710d-4ccb-a44d-392a460d27f1 CLINVAR:133106 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9067af88-3aa9-454c-be13-7cb8e54d1630 CLINVAR:12974 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c67286b4-2990-43c2-9979-7d83c85bae07 CLINVAR:12974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e90ff11b-9808-4e60-9a3d-82c204bacab8 CLINVAR:1675050 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 430e4ffb-7097-4957-b564-87c087b11cba CLINVAR:1675050 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9557e14a-7234-4d41-a87c-d05849b5a72c CLINVAR:1675051 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0aa7141-3b16-4333-ab2e-3ba51ea39cab CLINVAR:1675051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc05ecd-3b0c-4acc-910a-96b3c9aa7b5e CLINVAR:1675052 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee58fa66-1bf7-4af6-bb5c-e7e669a4cfbc CLINVAR:1675052 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 799b3957-9991-46d3-a575-b7e66b0d599c CLINVAR:251552 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b62168f-a73a-426b-b04f-2d1b5888011c CLINVAR:251552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8103742e-0e08-4a18-9d57-414ae9802896 CLINVAR:996231 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edec788b-fcd4-4e52-9e45-bf2bcd01e2d1 CLINVAR:996231 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7192bda1-07ac-44b9-981e-95656cf25ea5 CLINVAR:225097 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3370eb5-57c6-4297-8851-a35b5cfc6b20 CLINVAR:225097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68d978d6-a322-4ebd-a51a-36ad497c3bfb CLINVAR:251747 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dad8e60-2925-40e5-b0f8-f0bcbdc40c54 CLINVAR:251747 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c76de7a-c4ba-4238-8325-1971cd67aef7 CLINVAR:183123 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14a0a04e-c254-4653-82ba-f7908481daf7 CLINVAR:183123 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 875bc77f-9c1b-476a-bdaa-19d2652344e4 CLINVAR:251996 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fae30cdb-8381-453c-a991-dd94b1436992 CLINVAR:251996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c8669e-332e-49d4-9121-9ef139150d5c CLINVAR:237867 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 466de2e2-f839-46d3-9fd8-d1f7c47c2e32 CLINVAR:237867 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dad1332-7ec0-43d6-a07b-45b98de2d4b9 CAID:CA2573051031 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b32799b1-61f8-4447-96ef-74f31a1f682b CAID:CA2573051031 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e681ed2-fce9-4df4-a543-9f7db3db6688 CLINVAR:1675054 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6381b92f-8158-44b8-a5cb-a6780bbc7f1a CLINVAR:1675054 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad8724d0-b48e-4fdc-b6f9-2912153ff563 CLINVAR:1675055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2fbabd3-348c-4104-91d8-e26401780153 CLINVAR:1675055 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6109f2ff-a9fb-45a0-a17a-816c31a523ba CLINVAR:1675056 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09fe10f9-f9f9-4866-9741-792898c6f5d9 CLINVAR:1675056 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0db79125-741b-449d-b6a2-e86fb88a6ae1 CLINVAR:972749 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 438e1bb5-ad67-4876-a086-6c16bf3be1d1 CLINVAR:972749 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fdae42f-6e5c-4820-ad05-4562067bb362 CLINVAR:418252 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94d60cab-c5e0-4462-a4d9-3aa4d167260b CLINVAR:418252 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db6b458e-ffe2-4c36-b77e-7f877af19dbd CAID:CA2573051032 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen feff581a-d386-48f2-a606-e1825504f441 CAID:CA2573051032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d7c699-9738-4ea7-b9b5-33f9be9a823b CLINVAR:134506 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bd5bfc7-fed5-4dc3-9a62-8c5bafb5e52e CLINVAR:134506 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f38d1305-38d0-40ac-9c65-3ee9b3abced7 CLINVAR:1675059 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e181ed6-c2b4-413b-b53e-fd76073d04b3 CLINVAR:1675059 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f857e3-ee3d-41b0-a59d-845123b4d96e CLINVAR:1676683 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba88580c-4ca6-46b9-ac7a-92010dbea014 CLINVAR:1676683 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c70430-c9f8-4214-afb3-3ea060ede0d2 CLINVAR:1676692 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2c9cd68-b6ad-452b-bc1e-404616650bb9 CLINVAR:1676692 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31528526-4307-4252-8f4b-94ffdf78c7ee CLINVAR:1676699 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b6100c5-7064-4333-9bd7-dd6704286851 CLINVAR:1676699 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3bcb869-e9fc-418b-b31e-80744384f5fc CAID:CA386952811 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c84b9fe1-b384-4544-89f7-ad95b69b6e6c CAID:CA386952811 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3108317a-1156-46fb-8e1c-696a1f646a96 CLINVAR:1676707 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53e533af-4757-452c-a043-72ea01ee91ce CLINVAR:1676707 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9db7393f-2ef7-44a3-b037-30d961f600bf CAID:CA386953008 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7499019-915f-463f-b5eb-6c9a0b458886 CAID:CA386953008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab623fb-820b-4e83-846d-6dce44c2984c CLINVAR:36798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5163046-36c0-440d-bb17-9dfe3d30f304 CLINVAR:36798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb66ce4-c02f-4524-a27f-48db9bb8afc3 CLINVAR:1676720 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22638f8a-b515-43b7-9e40-6a5f84ff48fd CLINVAR:1676720 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6fabe4-b504-493e-911d-aeda8f69ef97 CLINVAR:882461 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5979eea0-91b0-4dec-8201-6fd5f53415e0 CLINVAR:882461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c774a887-92b9-49e4-a677-9f6d87d205ba CLINVAR:1676684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da5e7cb2-c160-415e-918f-bd721eb96717 CLINVAR:1676684 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 260dc06b-3153-4669-a5ae-3592a9ef01dc CLINVAR:14938 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8d6c417-0bf5-4a6a-9b32-61c9e7bc04c2 CLINVAR:14938 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d8ae40-33d9-467c-9324-95a4376108e3 CAID:CA2573051034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07d9a37f-0bbc-4b20-9fe1-7f4b5ee76c93 CAID:CA2573051034 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41236cbb-7185-465a-b8f9-d45241320890 CLINVAR:36809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 227ceef5-8a5d-4f9c-be6f-9159030a30b6 CLINVAR:36809 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c2e555f-e1a9-40af-a65b-2e87c644ab83 CAID:CA2573051035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cb1cf1a-eac0-4a37-ac4a-d9af7306e368 CAID:CA2573051035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 226f2b2b-4961-4d35-b12e-96aa970613a5 CAID:CA2573051036 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c15b0dbd-5a81-4d1b-b0f8-6446f3205f28 CAID:CA2573051036 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dbee70f-dd50-4d96-9d47-cb71b6b02cd3 CLINVAR:1676688 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 465fe819-c515-4cc6-8cdb-28ceed372a11 CLINVAR:1676688 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dd05766-fd58-4196-9bc6-d9a775f26683 CAID:CA2573051037 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d6b4d4a-faba-4722-a22c-58f610d8b4ce CAID:CA2573051037 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 624d2352-fa40-4b23-8357-55b45b88be39 CLINVAR:1676690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ed81896-7835-4233-be3b-cb9ac5cc3122 CLINVAR:1676690 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c995bb78-0c37-4708-8ca1-84594cc73293 CAID:CA2573051038 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b719d0fc-b60e-4421-b7e5-e0c9047d7cc2 CAID:CA2573051038 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e67a4500-80c2-45aa-8c8f-e59195993aee CLINVAR:1676693 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5617b576-7a8a-4164-a0e2-261abd2afd85 CLINVAR:1676693 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c37de2-c72c-452d-92ee-55e6d2d9b9a5 CLINVAR:1676694 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab46c41e-2754-46a2-9190-11dc55695b0e CLINVAR:1676694 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18063d9b-ea09-474d-ad53-f7c4cf10cfc5 CLINVAR:251581 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b91ad54-51a5-4e28-81f9-340d99d15eed CLINVAR:251581 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c808e354-07df-4604-aa37-a738d3d0f989 CLINVAR:3692 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0aaf2f3d-db1c-4e0b-a8b1-e22ac7099fc8 CLINVAR:3692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c23c145-cf9b-4c1a-984a-266b0ec17e35 CLINVAR:440612 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7307f06-ac37-44e6-8185-3c9a532e342e CLINVAR:440612 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 687472a4-2124-4711-95e2-a7f42ada175f CLINVAR:226336 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38b2e5c7-9d54-4ef6-a87d-239500cfd631 CLINVAR:226336 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b51d6b8f-b5e8-4d44-9080-7ccbbc659241 CLINVAR:251532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7fcf72c-2186-4ede-adaf-d1bea968d1a5 CLINVAR:251532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 975e98ed-ea7e-470e-bd16-1c27f72ab274 CLINVAR:251531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 658a2ded-bbce-48c4-b9f1-b9161f5df2fa CLINVAR:251531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b82b024b-c00c-486d-a7f9-ab0171f06574 CLINVAR:251782 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e75c07c3-8b48-459c-b2f5-b789c26b5401 CLINVAR:251782 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0848456-33dd-45d9-9f00-eabf3862a3ee CLINVAR:251784 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2e4ad0f-86ab-4e68-8517-5eb892559262 CLINVAR:251784 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c77e12cf-417f-4665-9540-ac593fa975c5 CLINVAR:189296 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7c66349-3efd-4b3c-a5a2-0da6ec135f89 CLINVAR:189296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08da770-5192-47cb-9dae-dca64a5be79f CLINVAR:200920 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f25bfd00-eb8a-4d93-9c1f-44bcf8b8ea34 CLINVAR:200920 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd6df784-0d77-4ced-aa12-03afbe3a5618 CLINVAR:251505 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92c87f52-705d-4d90-b631-df9d440cc556 CLINVAR:251505 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2814b5f-cbfc-4230-a236-9d7df9c01ad7 CLINVAR:441198 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1073f7a5-0279-4f8b-b189-7746fa561f5f CLINVAR:441198 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61e34a1f-d87c-43e5-8781-97d83915200e CLINVAR:441197 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c062b398-7a24-4efd-a22b-bcb048240a3a CLINVAR:441197 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ae888a-0bc2-4da8-a036-4ca3b2e01db3 CLINVAR:998053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ad00c4e-8e24-4b92-ae0b-f061876cfeea CLINVAR:998053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c089dfe4-fadc-4ad6-93f1-b530c5ff9f5a CLINVAR:200923 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf4a6e8f-0de3-4279-9b2f-846813d46cda CLINVAR:200923 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 235e1df0-86a5-49bc-b34f-b16ecc6e0542 CLINVAR:251102 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b0ec20e-0bab-4286-b614-bded7244e90b CLINVAR:251102 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a547995-a34a-4fe1-b38f-8f538761ac96 CLINVAR:541714 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2d698fb-f696-47ef-912f-f754f91a77b3 CLINVAR:541714 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b46e60f0-0459-4434-830d-c02c7714a8d4 CLINVAR:932830 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc81cec3-6609-4c91-926d-ad5ec0d241dd CLINVAR:932830 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a13b2ca1-7f28-4237-82a8-dc44e97881ef CLINVAR:552361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09d52633-34c7-4f8c-a2e3-f8231d1c4e95 CLINVAR:552361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e21549d3-faf0-4022-ab7a-dd6936c89807 CLINVAR:541718 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae388a54-3d53-4982-9320-157855280ae3 CLINVAR:541718 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cee6670-b03b-4aaa-98f0-4a2603663c75 CLINVAR:857574 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1472d71-b97b-463d-b0e6-8fc2952f1886 CLINVAR:857574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5658af3b-7c84-40ee-829b-5c800239feb0 CLINVAR:550796 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14aff0dd-62e0-4abc-8463-552ffe8e7f4c CLINVAR:550796 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a9d86ae-5736-4689-af03-b4aa70e0bf88 CLINVAR:203588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6716d772-4ff9-4933-a473-1fe47e1134ce CLINVAR:203588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8be3bcf1-d847-4b1c-b19e-24a68df5dca1 CLINVAR:943198 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fead301d-adb0-4e66-9e8f-71d97bba34a7 CLINVAR:943198 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4411f8e2-4012-4fb0-88e3-4875dfc2d4b9 CLINVAR:932733 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 070813bb-c8b0-46a5-8e22-a8fe164d1e9e CLINVAR:932733 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57a0bba3-95df-473e-a3f7-f433dde8d046 CLINVAR:569888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cbc5d462-ec4a-40cc-b137-063b35bf40c0 CLINVAR:569888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bff0e39-2682-4d4b-b9ca-42eac18a1978 CLINVAR:556238 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5dec196-e952-4305-a9fc-0a4309b30f50 CLINVAR:556238 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19e9f1e0-e913-4ff1-ac1d-4cd6a70ef015 CLINVAR:932734 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7def1e80-a29c-450c-ab33-c9fd7c20ec4b CLINVAR:932734 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efc68787-b75b-4e42-85ac-d9de619d2026 CLINVAR:189116 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4968f555-58b7-4360-91a8-aa6558e1a632 CLINVAR:189116 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 336d94a7-707b-4727-8683-cbbe10499196 CLINVAR:474896 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 862c3533-9987-49a8-91ce-d2004bf31718 CLINVAR:474896 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 394443eb-6198-4f74-b7dc-1ea5b4ebb6ad CLINVAR:203594 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48850501-300e-4afb-a8db-63e90b2e0084 CLINVAR:203594 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef9948af-765e-4fc5-af5f-6242a0a866ea CLINVAR:1624 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ea452a5-2d72-437a-9d52-767057e3c0fe CLINVAR:1624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be2a9ced-9035-41c3-b889-32bf32f740bc CLINVAR:932735 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03fc60c9-ff5a-4c68-814f-7cb68554915c CLINVAR:932735 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a91c29a9-f077-45dc-8a79-cf3c589fac85 CLINVAR:1074732 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e50a3c3-2135-48b6-a2a3-285472dfdd18 CLINVAR:1074732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a6215ed-08ce-4705-8060-f7d0346ff77b CLINVAR:951288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 144773c0-835c-4b82-a216-89eaa8104038 CLINVAR:951288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f456c56-487b-48b6-83ff-23174ff5d945 CLINVAR:1676695 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b07b57d2-1659-4132-8073-1086336a648e CLINVAR:1676695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b356b03f-a5c0-4553-94fa-f6c8f2a53f1f CLINVAR:36816 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98006fa9-dfe4-4457-91fd-717b66c7be0b CLINVAR:36816 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9e1346e-5df3-4bb5-86b3-2d3f2146ddbc CLINVAR:1676696 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b42a7ec5-8142-41f8-9bf2-8081dc124ce7 CLINVAR:1676696 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf65e245-f33c-4b79-8781-3a9b1dc0a3ea CLINVAR:36817 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 172753f7-fdbc-43a0-99b9-b6b326492b1d CLINVAR:36817 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3fd1dd2-9475-4a32-9c39-56eb21fb767a CLINVAR:1676697 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a5ead37-ffb8-41f4-8635-df7ae7f8169c CLINVAR:1676697 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f2e451-3962-4f43-b2fd-d2ffde3fb2dc CLINVAR:447486 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67efbfcf-ad49-4d72-926c-4006ece97f31 CLINVAR:447486 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b3898c-2a14-4d85-924c-9af3c77f4bb3 CAID:CA913203553 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76a8892c-3c5a-42dc-93a3-db1a9e82abd5 CAID:CA913203553 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0849e98-bbdb-46f8-bd49-92d43eeac46e CLINVAR:36819 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11c2db74-f466-4b03-9ddb-05a73d3b1707 CLINVAR:36819 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49730323-719f-46a6-a940-74f6bf164f5d CLINVAR:307458 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddea6164-4710-45b7-9439-2a9abf3bbebb CLINVAR:307458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ee7eff9-cdbf-491e-802f-ffee83b5ae2b CLINVAR:1676700 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 613a6295-9a58-44db-b34b-914f7a5e596b CLINVAR:1676700 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222f1b3f-6db0-47c9-b9f4-567eafc8132e CLINVAR:1676701 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb4610fc-7144-4b19-bacc-567619f8043a CLINVAR:1676701 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1712e2e-bdfe-43fb-b12c-7d115c60946b CLINVAR:14942 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc89d971-8ce4-4386-ba66-5430eee1a49f CLINVAR:14942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0784da6-4e09-45d0-986d-a3247109c412 CLINVAR:1676702 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50a28e89-0649-4cb9-a148-baa6902de3da CLINVAR:1676702 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fe25631-36aa-43d7-ade5-3aa5e54966ef CLINVAR:36820 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d31b7f5e-fa84-4894-86fb-f52db8bee239 CLINVAR:36820 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 072af7c5-b611-4016-a9a1-c7c0b1fcba9d CLINVAR:1676703 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b42d956e-c7b9-4eb9-b63e-b34211c9ea89 CLINVAR:1676703 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64fde593-1633-4804-89e9-7d6676419156 CLINVAR:447489 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efa31c7f-eaf0-4432-ab98-e471dc7c842a CLINVAR:447489 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb1106a-4e79-4a61-8f25-c41996bbb5aa CLINVAR:36821 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df8867fe-91dc-4155-8035-e33b5a3cfab7 CLINVAR:36821 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5784b2fa-4f31-49f6-b3cb-fe5d0810966d CLINVAR:1676704 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cbe61f1-4c1a-4b13-8131-fa17f40860f5 CLINVAR:1676704 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 169caba7-500c-4c94-96e1-1b74a0a67506 CLINVAR:447490 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee2c7c1b-82d2-45d7-92d4-4ba3b16a3a50 CLINVAR:447490 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021e2787-0d2b-4337-a125-cb475f980e3c CLINVAR:1317072 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3e7e442-6013-4270-b0e3-4560d8e505f8 CLINVAR:1317072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa3f8876-60e3-4edc-af58-65e574207443 CLINVAR:377965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c7074d1-a956-4861-974b-bc776492277f CLINVAR:377965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1538a64f-73e3-46e4-9098-ef6c14a31351 CLINVAR:372380 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9390779b-10a2-46f3-8e79-0978ba495172 CLINVAR:372380 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8df25f51-7bb4-47f5-9962-453e8cb51517 CLINVAR:449035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95c6f59b-8f47-4a1d-a572-92cc353e5297 CLINVAR:449035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6871d5b0-1db7-434b-a6d7-cf210f56ea80 CLINVAR:36824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 803821f7-0ec4-4ab5-8c80-90c49dc61f36 CLINVAR:36824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd5a53a-a9c7-4b8b-a29d-682cfe3d4880 CLINVAR:381588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02ae259d-1f08-4f5e-97bd-57bbf5dedd93 CLINVAR:381588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5598d6-8ca3-444c-998d-e41c71d96aa5 CAID:CA386964227 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bd98dea-8ca1-4a58-a99f-3892be3b2838 CAID:CA386964227 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed5c9ef-9d29-4ee3-b2b3-8f154c1ff795 CLINVAR:1338381 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfad7240-277d-4892-a273-37a7205cc2b0 CLINVAR:1338381 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7754e0-4734-4913-a94c-6993a060ba98 CLINVAR:129235 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a607179-0345-4399-8b2a-7c44c848409b CLINVAR:129235 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148f1751-4e5a-4ba0-8258-df0eed10d69f CLINVAR:393434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aebdf742-ac6e-4736-8cc6-43101860e0f6 CLINVAR:393434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db02cfaa-bb32-4778-bcb8-9856725ff189 CLINVAR:36825 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90b8159c-2b95-41e1-b810-57fca12f89b6 CLINVAR:36825 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc611e33-9e23-4086-927c-7052c5d52aaa CLINVAR:435428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8ec86b9-5a08-48bb-8584-3a085a7e15c6 CLINVAR:435428 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c41f9f-b364-47f4-b09a-8866852c994f CLINVAR:379904 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7b4049f-e630-4c34-90f5-39f14c1585a4 CLINVAR:379904 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c654b1f2-e101-433c-b857-545e4e243527 CAID:CA386965177 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b10923cc-0b55-42b0-8aa9-6293207e8582 CAID:CA386965177 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd68263b-7633-4e79-a1a7-aeb74fff24bd CLINVAR:393456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32084438-5b51-4f23-a37a-c6b2492959cd CLINVAR:393456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c521e71-0a84-40a6-86c2-db5a2ba0c5d1 CAID:CA913203569 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ca16bb2-d55b-49ad-b52e-9f46c0f98548 CAID:CA913203569 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e44947-35bb-48b5-b2b8-3d2c6797c4ef CLINVAR:447497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0b2f398-6224-437f-a7e5-69b2005e302d CLINVAR:447497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac7d3b0-5b6c-4d8d-a0c2-d00f5cb8a2ff CLINVAR:1676710 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92653e25-55ba-4a2a-8e4f-eab34fc03d2f CLINVAR:1676710 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56adb032-bed6-4660-aae4-ca506ccc9529 CLINVAR:1676711 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2f2cbc3-5c99-483b-a0e7-01515c8c8db8 CLINVAR:1676711 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 159753e2-4cd9-487c-b12e-9ab63f3a527d CLINVAR:452526 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1138c240-15d9-4d90-b665-a82ab3832d62 CLINVAR:452526 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eedc785c-ff62-4d3a-b2d0-29aa5ac401aa CLINVAR:36828 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cae6f20-5ac6-490b-9737-cfe1e09a0ffb CLINVAR:36828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd9c1a93-b89c-4359-8b1f-e555403ccf5a CLINVAR:1676713 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7920ce6a-4614-471a-a846-c5429c7a7a60 CLINVAR:1676713 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd28d7c8-4ed5-48f3-bd86-5049fceee96e CLINVAR:838654 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23627284-7e62-4eb3-82e4-5595de74814d CLINVAR:838654 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7064e8f-5631-4721-a62f-3a41101d0d31 CLINVAR:203575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c54a7950-4d1e-4bde-889e-b4d3918955ca CLINVAR:203575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89634ea-35f1-4548-b8ba-acd15d545e45 CLINVAR:1676714 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce7e27a2-c950-4647-b6b3-e2407bae107f CLINVAR:1676714 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d45ae747-6a98-44c6-9e3d-ce4a6a61a34f CLINVAR:1526008 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8de5341d-ffbe-43ef-90fd-8c9e04f15660 CLINVAR:1526008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecfc4974-d483-4400-a9b4-c3de1d5228c3 CAID:CA915940438 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83062fa6-9986-4dbe-9a14-ddeb49b5223f CAID:CA915940438 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 456ca8d7-ffd7-4de4-bcf1-0aa585496515 CLINVAR:1676716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2422756c-4584-4cc3-adb3-c5770940adb9 CLINVAR:1676716 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483a8813-b091-4d88-a766-21046d99065e CLINVAR:447498 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c927eb06-ae69-4da8-a7c7-3f9e4c3af8cc CLINVAR:447498 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429a1b7f-6ed2-49d0-88aa-093a8b5a3cd6 CLINVAR:1676717 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d1ea22c-6cb5-4933-96e4-5bdcffd1f822 CLINVAR:1676717 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 462a56d6-6b9e-4572-bab5-5a39292fcc3a CLINVAR:998237 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec8d618e-d5f7-49a7-98d6-33dc8442d294 CLINVAR:998237 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5158e91-7459-4af3-a3ee-29e3e7a58b00 CLINVAR:265436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69755f52-71c5-43e1-9ec0-3994958a5fc0 CLINVAR:265436 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64017c5f-0237-4b72-963e-f94e3c10dc82 CLINVAR:562367 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03b7b8de-e04f-4145-8884-1cba6f39b3c0 CLINVAR:562367 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2195b152-ad14-472f-bd60-a34199d6943e CLINVAR:379138 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1004667b-a233-4964-9e13-625fb4f7bca7 CLINVAR:379138 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 379e5ef0-eba7-428c-ba22-73e8240a9a0f CAID:CA386966158 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ccb498e-39f9-4a62-a9cb-5a834ef18784 CAID:CA386966158 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de8ca78-6f63-439f-9360-2d050df30a2d CLINVAR:36830 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03bcea87-105e-4ef3-a1b1-117bc4592ce8 CLINVAR:36830 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 352bf74f-2003-4bfa-8355-5658c2d237df CLINVAR:1338730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b71d44a-65d3-44eb-a710-ff134950b8c1 CLINVAR:1338730 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f18c1a5c-ebcc-40c5-9aae-f7b402c29764 CLINVAR:265193 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a5ee20b-e9f2-455f-84c3-3a90c5e16ba1 CLINVAR:265193 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bb8dacb-15a7-4d93-94c7-e097bbd887eb CLINVAR:447504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b4c1544-9b3c-45fa-8a58-b17ae7db0ee5 CLINVAR:447504 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b714f1b2-cf1c-4e6a-826e-d338809656c0 CAID:CA916079828 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1050dc0-5419-4225-bd35-e55cfd4bf40c CAID:CA916079828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbcb02b8-824c-4240-aeac-b1d528ab4d7f CLINVAR:1315612 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf2f37a5-df94-4afb-a1a5-01d5fef23f7f CLINVAR:1315612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ec5bced-b0cf-439c-8cff-d6db0b3f5e00 CLINVAR:1676721 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b00d419-8c2e-4e04-b28e-fbb83c9a5025 CLINVAR:1676721 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c91ce680-a36d-454c-9dd9-50e5b3a3f92d CLINVAR:972753 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 886b524d-b708-48c1-adc3-ff4a20653780 CLINVAR:972753 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35792151-4e4a-4d9b-930d-1bcf3cb97073 CLINVAR:14927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31bb990f-ad59-482c-bb97-93d1d5a65935 CLINVAR:14927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc91e507-65bd-4256-ad5e-d6e00a44812d CLINVAR:447503 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2b8da8b-e0e4-46aa-940a-b54faf98849b CLINVAR:447503 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3564a685-c6ec-46fb-84ea-501f39276168 CAID:CA386966358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 450dc2bd-d092-4338-9e79-8e8c2e6ae1bb CAID:CA386966358 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2270b4ed-af7b-4f2c-a163-4b32e26e018c CLINVAR:449403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 250c8aa3-4c04-4648-b3f5-da8c9ef235a4 CLINVAR:449403 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 536259cd-a449-4212-8668-0b878998ab7a CLINVAR:447501 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c541314f-a9a5-4495-b0ed-69029e607654 CLINVAR:447501 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dc51a7c-c4ec-4eee-be43-c8917a6ab799 CLINVAR:447494 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63373f9c-66c7-4469-9919-45cabc318be3 CLINVAR:447494 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65c03a0-c16b-4053-8842-6d3a894bac7a CLINVAR:1687075 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 799f136b-1bae-4584-b4f9-bb6ec21d008b CLINVAR:1687075 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c9bd4b-0dee-4c5e-9299-3b4d422bb8d5 CAID:CA916084342 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fef8c115-b0c3-47b1-adcd-4e4e2267eaf7 CAID:CA916084342 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eda69279-e0da-437c-8d19-257da3d56a06 CLINVAR:102631 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf538451-e2b4-4c8a-a7c4-f69105e4400d CLINVAR:102631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63266f43-c192-44ab-89a1-e43b7f7f84d9 CLINVAR:102599 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13f3ea15-a720-4cc7-a484-15a664a948c1 CLINVAR:102599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f684658d-33e6-4882-9945-58d41ebdb622 CLINVAR:102863 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4723b2fc-1f82-4ec1-8d00-8a17998c9034 CLINVAR:102863 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d5ef76-3698-4b83-9192-80b38d8a7d6f CLINVAR:102836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bda3ca7-74ee-4ece-8121-74ce81d4ec3e CLINVAR:102836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3920a9e8-4efc-431a-8bfe-7d2a04ee6d63 CAID:CA16020858 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b71796b-ee26-46ef-a1c8-7507994eaa14 CAID:CA16020858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ccb7696-32e8-4bcc-a66b-d5e4359af34e CLINVAR:102835 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c04dde79-3dc8-4d4b-bab3-37e434f8798d CLINVAR:102835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e76983-e9e5-4464-aef2-c1a040529c6e CLINVAR:102651 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 854ea7bb-ab43-4098-81a3-c94d25e5ec88 CLINVAR:102651 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5011cf32-e079-460a-8072-605b332e3d98 CLINVAR:624 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8f1b4b1-fe31-4cac-b5ac-a30b8f25017a CLINVAR:624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e9f10f-c810-4157-987b-c4c618b3cf5d CAID:CA16020834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f9cb7c4-f688-40ea-9523-30db8640af6c CAID:CA16020834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0a64e19-d64d-4e57-8701-4cbce061c9fa CAID:CA16020917 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 960c688b-888f-4c7e-b778-aa9b64a5ef15 CAID:CA16020917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c4d09e-9526-44fa-b7d1-9f44c5cf977d CLINVAR:430837 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29fd829d-e895-4013-a594-f1977a0cfbe8 CLINVAR:430837 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207838d6-a15f-4cbe-b427-2480e873bb2d CLINVAR:134513 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfb13832-c485-43ec-988c-a5415b7bf678 CLINVAR:134513 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0b55509-7c26-4047-a08e-4e25a549bd0f CLINVAR:447484 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16c44192-a221-43ff-a4f7-3391fb94ba76 CLINVAR:447484 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e62a710-926f-4a38-b494-dcece00d896f CLINVAR:1687067 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 177d8c76-dfbe-469f-a1bb-b3d9824db35e CLINVAR:1687067 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 682ca6e5-aa12-4e4b-93a3-ada19ac22fb1 CLINVAR:1687068 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02433b88-2b4f-48a9-bb6d-2523ced42fc8 CLINVAR:1687068 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1594a3c1-880c-4fa7-85f9-77765e8f76fc CLINVAR:1687074 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53cf924b-db3c-4bfd-951b-3fed57ecab02 CLINVAR:1687074 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519726ea-d394-4746-82fd-7cdbb23c4ef2 CLINVAR:1687070 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a2782ba-09cc-4274-9da8-45efb99ce5e2 CLINVAR:1687070 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6bc5115-f4d4-4f46-96e1-4f5485b7c401 CLINVAR:1687071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27c39676-7898-420c-89c3-94a8c039f1a4 CLINVAR:1687071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f289b4ec-60ee-47b3-9565-3dc28dc220d5 CLINVAR:1687072 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e100e15-611b-43ab-91b1-5a3137c64aa4 CLINVAR:1687072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1de39f-9b97-498b-a0b2-85b906d49a1d CAID:CA386958695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d830ccab-c29e-4ff2-a78d-75d191982b7d CAID:CA386958695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51d44897-2fdd-4c8b-b561-ba38e4980246 CLINVAR:447500 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba8bd9a6-9d23-4f2e-aeec-efacbd1b7f3f CLINVAR:447500 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1b9336-37dc-4700-82b0-0d44e39e5964 CLINVAR:14945 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd17a493-e1b5-4570-b8de-039738d1a476 CLINVAR:14945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e19c488-55a2-4615-9f81-243c5251ed14 CLINVAR:1687076 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bca8f171-5979-4079-9150-c99e814698ff CLINVAR:1687076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce574e1f-941f-40f3-8656-2ec2c65bc996 CLINVAR:252220 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73b27e68-1d78-418f-9851-b21223a2ecf8 CLINVAR:252220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c3d6ae-45b4-4bbc-bb70-f74f75a36742 CLINVAR:252221 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3991be1e-eeb1-4e29-a19d-69498c3d597f CLINVAR:252221 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 470aea22-018e-4584-a560-18e75b6a423d CLINVAR:36823 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb7d9b2b-5985-4f5c-96ff-3209d0fadfcf CLINVAR:36823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2f6df20-fddf-48f8-929b-648ad8340c68 CLINVAR:134509 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 671c4d69-7340-4883-9790-ef8000f50791 CLINVAR:134509 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5467b485-e988-4a02-ba4e-15b30f450102 CLINVAR:918071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7eeb79db-dc59-47cf-a959-b10cd3d5f6fb CLINVAR:918071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5841aafe-2dc5-4983-b5e2-6a57de9b5a76 CLINVAR:843407 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9032981d-f1c6-4687-b0f6-08c8f3039865 CLINVAR:843407 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 850bfc6a-55de-40dd-b336-7d75a6fdf00c CLINVAR:251435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db6d791c-ee38-4e30-b5b0-675cbf9cd2fd CLINVAR:251435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39bb9d3d-e9b7-4538-ac28-f67836d97330 CLINVAR:226351 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce06976a-0974-42b1-ba14-b7fabfdfc84e CLINVAR:226351 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50f42164-f4e3-49ac-9b20-281705463cc7 CLINVAR:226352 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 866feab6-fdff-406e-b016-1ed04857e305 CLINVAR:226352 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d11f2f4-0cb8-4b81-9038-1d70fb42f57a CLINVAR:250966 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d66f4d54-f28b-4ab5-b7f5-3e92bb8b68e8 CLINVAR:250966 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f674a8d-3744-43f6-b6c9-1f630463ff38 CLINVAR:250967 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab7a4a94-3df4-4b97-bdaa-a512682ba0f0 CLINVAR:250967 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 166f9172-d89d-436d-b636-ff61d6af08bf CLINVAR:441174 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dca6340b-1fc1-4b49-8dda-46d624453b37 CLINVAR:441174 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b7d365-7af8-43b7-8d09-7ed265480f9a CLINVAR:440536 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 713c660e-096a-4332-ac30-e8a8fecc666c CLINVAR:440536 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a182b8af-839c-4f9b-be25-1e26a83ad89d CLINVAR:250969 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f38f6c0d-5a99-49f4-b5cc-be6025eee1ea CLINVAR:250969 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d72a4eff-ae31-4de5-8819-ed3d0bc60dbb CLINVAR:3739 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d35755e-e503-41c8-95fb-b2ba570ead21 CLINVAR:3739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba05389c-afe4-4bd1-b125-6cd5d4782118 CLINVAR:1687077 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c025df3-d518-4101-ad3f-1add45c06021 CLINVAR:1687077 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48be7795-043e-4447-a98e-89bf8df758da CLINVAR:14935 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7f315ba-f7f8-4788-9fe4-08a74996f38e CLINVAR:14935 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f4be0aa-9457-40e6-8c7d-10560ddbc04a CLINVAR:920048 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c4b16a4-d2cf-484c-a60a-c2e5659ce0f4 CLINVAR:920048 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e50b869-9ce2-4dea-a75d-db64a8fe618c CLINVAR:251580 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bc7d272-1929-43c5-895f-3a5eb42bd674 CLINVAR:251580 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f12cab-c18e-49ad-811a-a532fe5e0ad8 CLINVAR:440663 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee7578bd-4bad-450c-ba9a-25c58970aefb CLINVAR:440663 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9b9301-e8a0-4883-9388-74d486eac221 CLINVAR:252084 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aba2bb8b-75ed-47a1-bf2c-2fb72adabe05 CLINVAR:252084 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d0820b2-ec81-4e3e-802a-1b285eb7c83c CLINVAR:252085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ea3b58a-7935-4ed4-b2ae-94680025ef78 CLINVAR:252085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c8a46d-a77b-4c25-b6ad-545af870f8f6 CLINVAR:250957 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7610739-e71a-4c5d-ab2c-0c015cb0a2c5 CLINVAR:250957 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf5a469-7fd7-4287-8063-714ceddf899f CLINVAR:251508 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ad3e88b-9af6-476b-aeae-ef9a06596255 CLINVAR:251508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 672e7ce6-8469-4ecf-9d3a-15fd2e64ed32 CLINVAR:251507 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 013b13a1-11a8-4492-a580-78a4bee9b1eb CLINVAR:251507 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85cd096a-702c-4ccc-82a7-c5ccc4243241 CLINVAR:36459 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49a24217-5ee3-4fa9-8825-56326a727776 CLINVAR:36459 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3a6e7a-ab40-4630-a45b-565b4018b504 CLINVAR:252224 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 750fed26-1556-48ec-a8f4-c7fc90d08bf7 CLINVAR:252224 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c3d0a1-8f70-4f38-b1d7-7b653f574b29 CLINVAR:250933 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0a61e74-d58f-4974-8550-473a73a93de8 CLINVAR:250933 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e4d6bbd-bd03-4ece-8691-8fd01170782d CLINVAR:251611 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 613e347d-ea33-45de-8f4a-b79acb4531cb CLINVAR:251611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16be61be-e978-461e-ae83-d6ada2e9bcdf CLINVAR:226342 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21942022-ec8f-47cf-900b-c652429e5550 CLINVAR:226342 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18960c3d-f7b3-44d9-8659-a478b71d1ca3 CLINVAR:440627 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f641665-d817-47b6-9a34-8c955314f682 CLINVAR:440627 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea143912-4d7e-4332-8c01-55d8763d6cbe CLINVAR:251693 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c43b6a0-8836-46ca-b147-e49423d5af2e CLINVAR:251693 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c7ed685-eefb-49e0-b452-a0a765d44bf2 CAID:CA397722480 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1570d6bd-7041-4986-95f5-561dc9b2fa71 CAID:CA397722480 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9536aa1-958d-46ca-aa38-26bc35058eae CLINVAR:648624 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a628991-e287-4baf-b992-5ed15b8a0b9b CLINVAR:648624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04766dfa-5464-41f0-b8a7-189045699dfd CLINVAR:181279 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 964c584b-aa7f-40fc-9e72-aa6f1c63ed19 CLINVAR:181279 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70bc5405-0a02-4c1a-bf79-36f3e95c6fbf CLINVAR:181390 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7121aa4c-e69b-4210-afaf-5cc66cbb83e3 CLINVAR:181390 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69fe4271-84ae-4c19-ae74-b335c73213b1 CLINVAR:43095 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88cc3816-34de-408a-89dd-e8bf9a312f1b CLINVAR:43095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00744c3c-1f99-4b07-aca5-35994a443158 CLINVAR:953854 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35199d3d-d3bf-43cd-90da-76dd5dc5f5a9 CLINVAR:953854 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d382844-59f6-47e6-a367-73c4d0a3139c CLINVAR:932736 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01b8549a-8282-421a-a567-58f407981c21 CLINVAR:932736 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a5831b7-4c7b-4b5d-9a3a-00e737006690 CLINVAR:250970 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19bc3323-f93f-48fb-b399-6d60aa223b4d CLINVAR:250970 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee64355-24eb-4817-b494-f024e8b4fc21 CLINVAR:251309 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8291e375-cf0f-4a6e-9da4-230f16b4180c CLINVAR:251309 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c74daf2-ebdc-4866-bfaf-d82d2a9335f5 CLINVAR:3683 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab2aa96f-3ded-4fd6-b061-9d9e1d169399 CLINVAR:3683 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56880886-fdf5-488b-8ae7-4b94b2e25755 CLINVAR:3691 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7850423a-43f1-46e0-a27c-4eb2ed657871 CLINVAR:3691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb9fa19-8fcd-4dc4-97f7-87125b1c5f82 CLINVAR:226333 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4855ca58-fd26-4d57-abe7-104f499110ee CLINVAR:226333 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d78b284-c5bf-4df0-8999-201df508eb1e CLINVAR:251421 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 439eedd3-febf-4155-8424-93d51ccd652d CLINVAR:251421 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29805c0-379a-4366-a01d-aa4954f8e320 CLINVAR:440613 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a629d56-f16a-4792-a32b-912e60f2bca1 CLINVAR:440613 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71dfd1c0-9457-43fb-bc8b-d273e5b8aa80 CAID:CA386972260 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 356870f6-a7e6-47eb-867f-6017d1a2948e CAID:CA386972260 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e5339a1-9964-405c-a356-f95e3319c739 CLINVAR:256597 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8911936-311b-4d9d-9130-c68f31f4af5d CLINVAR:256597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7e9dbd5-93cc-4a9f-a035-5140fde6c8bc CLINVAR:36829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9975ea8c-c082-4c58-b08c-336dbf2257c0 CLINVAR:36829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c93078bb-9061-4455-8ebe-7fd766d8063e CLINVAR:1338571 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e71fdb96-bd26-485f-94ff-d2233819f3b5 CLINVAR:1338571 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42fad673-684f-4b0f-b9a7-cad73692f26b CLINVAR:36832 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd0c5106-8fee-422e-a084-b0f8b34603b8 CLINVAR:36832 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 046aca65-f8bd-4e68-8b84-aa5a5be05abd CAID:CA386970411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2aa653d5-c323-4b8d-974e-fa52193681c5 CAID:CA386970411 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b71e803f-3b76-4123-96d3-a8e85ca61c8f CLINVAR:36803 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2402b00-8bb0-49e6-ae42-3422f5ee3e6b CLINVAR:36803 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7ed9cc-f318-492a-b569-530ab8a416ac CLINVAR:256598 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18d8ec09-2a34-4f32-b5b5-a657dc57f236 CLINVAR:256598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f897ba61-a6c6-464e-9aba-6d0b7b5311f0 CAID:CA2573051033 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 314f5660-a397-4bf1-a65e-ea9889b37254 CAID:CA2573051033 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b2049f-a985-40d5-8e49-b20557a5cbda CLINVAR:307462 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d4943f2-f05b-4c29-ab3d-f7b6dd1372c5 CLINVAR:307462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1fbd44-aa24-41ff-b8a7-4a6e4ebd0058 CLINVAR:36812 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30cd6b2e-6b80-4e96-8f57-ceb3bfc030bd CLINVAR:36812 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc920e7c-8689-48d4-a2eb-c0e0b0a5d586 CLINVAR:1687082 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 466cab3f-e261-4b37-819a-475cba6e58f2 CLINVAR:1687082 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a65f8e46-a725-4745-b02b-bdf7ea2c895d CLINVAR:1687083 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6d48039-457a-4576-aef1-2e203805dd28 CLINVAR:1687083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b8f641e-331f-4fab-910f-6239b1a69118 CLINVAR:438709 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c535d21-aa03-4146-a0bb-d230d5848cb4 CLINVAR:438709 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdceb27f-5400-4726-bcb4-007b70fe75ba CLINVAR:1687084 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1c33b44-3017-4441-ad3d-73e54c25a1ac CLINVAR:1687084 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09f7071f-e0a7-4590-986c-36501de52c5e CLINVAR:134507 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d235f99f-3274-47eb-b1d4-a406b92d01e0 CLINVAR:134507 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea1a0cc-88fa-4176-8171-7b660e4c6602 CLINVAR:1687085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6af37c14-d52e-4d72-ad33-0c39890f1fbc CLINVAR:1687085 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6528ffd0-66c1-4c04-ac25-4e896ae2f420 CAID:CA2573051045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5cffe33-ec74-4b49-8fb8-7af07c37762d CAID:CA2573051045 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3188dc3-fc68-424d-a028-ccd0afa475f4 CLINVAR:1687087 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f756dbc-6dc1-4ba6-b821-93ffa6782916 CLINVAR:1687087 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a496b36c-6d85-4381-a6e2-0d1f3afc06f8 CLINVAR:307474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17c29215-dbcd-4047-8229-35431d70aed7 CLINVAR:307474 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c192dba7-541c-459d-9151-96a73930209f CLINVAR:376917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d275cd7e-006d-4ba9-8e4b-eb2b7550bc95 CLINVAR:376917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f568458-9846-4fce-9aed-1df6083157da CLINVAR:371068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 334246df-0869-441a-a60a-8d50f789f02f CLINVAR:371068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3837eb-7feb-40e4-89e1-f04fa193ccac CLINVAR:373614 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22c8efb8-f7fd-415c-833a-41e886d65aaa CLINVAR:373614 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7489918f-50f2-4b26-a843-2741a3e22059 CLINVAR:929167 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 121a0d1e-16fe-439b-b7b4-194b6951a4d9 CLINVAR:929167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95641c0c-208d-4292-8ae3-a8fee95aa8e6 CLINVAR:4025 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c16cd31-2550-493b-8bd3-69cede7cfcab CLINVAR:4025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3495db63-8723-48ea-8806-adcd033fa075 CLINVAR:1693548 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5afc76c-2bb8-4eb8-b05c-b8df90fe12a7 CLINVAR:1693548 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5350135-470a-44af-8a63-d22a2d4357bc CLINVAR:180144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8ca7525-355e-4452-9992-60206c86a9b9 CLINVAR:180144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63bf344a-3186-4b66-ba67-150d42e94a1d CLINVAR:430167 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b02aab9b-f34a-41a6-9b8e-09e8183ce0e1 CLINVAR:430167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c38e550-d35f-44eb-98da-d4b54ab7a52d CLINVAR:307467 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a488648-d405-4567-9487-35f079708e4a CLINVAR:307467 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d15e54ae-63a0-4cbb-bd87-73efd679b57e CLINVAR:48256 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9fd2051-51b1-4838-8174-d7e01fefc9c3 CLINVAR:48256 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6041a3b-2276-4e8c-ac2e-19226889623a CLINVAR:6137 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed433342-4406-40f6-ad55-388c6c3fe408 CLINVAR:6137 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1faba5e-58b6-48e8-be64-3c7db9895fd9 CLINVAR:21831 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85b8f225-5867-4d81-a707-a74c4e2efc69 CLINVAR:21831 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d5b6fc-699a-4b71-9840-2da1a63eb967 CLINVAR:48253 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b13b981-64e7-45cc-b8e9-485ddb54904e CLINVAR:48253 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626bba3c-712c-4076-a934-f32dcb2c1c54 CLINVAR:897955 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6940b199-22df-4eac-83f6-f8524a350fc1 CLINVAR:897955 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b581d0da-868e-4d70-aad7-2fd38e138ba7 CLINVAR:48235 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab8e5d73-adf6-48f9-af4b-c6e53d21437a CLINVAR:48235 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 465befe4-d344-4f23-a48e-a2ff825dd5b0 CLINVAR:500061 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0adbe45-6c09-4161-8ffa-ebaf6bb3dd65 CLINVAR:500061 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f966a37-c5ec-49ae-a5b2-0f8da5b9bfc3 CLINVAR:666995 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b10fb6c8-08e9-4d63-9b0f-b34d94f91fae CLINVAR:666995 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6723296-1eb8-4fe4-95b5-02ea926a2118 CLINVAR:505185 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26d82310-d00c-4219-98ff-0dc1c17dbdd4 CLINVAR:505185 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a28c3fc-afb5-4cd1-8079-c9ea4a705bb9 CLINVAR:930033 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14a357b7-e4c5-45af-af9c-c7cb82584852 CLINVAR:930033 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80cb973b-88b5-4382-9320-92070a795f1a CLINVAR:632271 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fa3221c-cab9-49cb-829a-a894c6c9e90e CLINVAR:632271 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff329366-eafd-4725-b7eb-e2b9629111be CLINVAR:623347 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 599641a6-1d45-4c9e-94cb-6d57e4e2f8a4 CLINVAR:623347 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61d21b03-adbb-4122-9f3f-92fdb7ea426d CLINVAR:449526 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98aae7cd-3642-4bde-983f-ee05cc30ce77 CLINVAR:449526 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f7d3364-1ec4-4781-bda8-7c3133c86357 CLINVAR:6950 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26e6e7b0-56a8-4781-85d4-45fb952b688d CLINVAR:6950 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 328cd98e-1579-405b-91e7-3f44558ee51e CLINVAR:1693547 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b45e61db-5d8c-4e21-9538-53d1949cb229 CLINVAR:1693547 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ac3547-6aee-4dbd-a0cd-828bce4e95dd CAID:CA658795287 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 224f170d-69b7-4c5d-a851-99483b76916a CAID:CA658795287 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b5d6bf-d963-4a3b-bb45-60e880798636 CLINVAR:370277 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e112880-45f7-428b-9924-60c329555c09 CLINVAR:370277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be0e8f8d-2ebc-49b6-af3e-63ee2c28a6c0 CLINVAR:1686781 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22339c03-f52f-4200-b170-f859a4e92c64 CLINVAR:1686781 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c4ce721-cad5-4957-aed5-e40c44c8cd51 CLINVAR:1686788 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9db12b89-ba75-42b7-bbb3-aa2a156b0e56 CLINVAR:1686788 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d654ca2-97e2-4293-8a13-66e191f7ec89 CLINVAR:7952 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d90adb0b-0edf-48cf-bd1a-a7fc3f47a1dc CLINVAR:7952 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b91295f1-8c47-4b6b-8c1d-cf81cb25e1c7 CLINVAR:1686795 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd1da5ad-67ad-4bb5-ab2a-4d826a42973e CLINVAR:1686795 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483541ce-01ed-4883-904d-2287c1752387 CLINVAR:1686796 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ee8a43e-d7fe-4960-a585-456ffbcb33b6 CLINVAR:1686796 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d069da3-3282-4354-bc8b-431a0c007efd CLINVAR:1686797 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76a465f2-2876-4d2f-a2c7-2ba826913e94 CLINVAR:1686797 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26b3119c-643a-4ccb-a80b-7b4135251edb CLINVAR:7954 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86ed0924-820d-4715-9db9-39413d5ada0d CLINVAR:7954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a16cc4-99c6-4b56-ae60-b61e74e1dfe2 CLINVAR:1686782 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f6fd3ba-46c0-4185-9cee-b15d68bb7e43 CLINVAR:1686782 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3d0630e-6ff0-4de2-b4bb-1ffcf4f65db5 CLINVAR:1686783 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97d1d76b-c498-4ee9-8c16-c6515ed0b59d CLINVAR:1686783 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 623bffde-1d3a-4f60-8617-93ca3d737352 CLINVAR:7956 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffee0613-9d18-4f64-8124-40dc1a722f8b CLINVAR:7956 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4439e6d8-93c9-42b9-93dc-38457a48fba0 CLINVAR:1686784 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d66a1f52-a032-4996-9f18-f5a7c4fbffd7 CLINVAR:1686784 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f7d68d-3dd1-4f6d-9242-2fb2fb94123f CLINVAR:30205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d419f894-f0b4-485d-8ac9-d7e7cefa57a8 CLINVAR:30205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96931881-5ad3-416c-a309-76fe3cdd045e CLINVAR:7950 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c165bb0c-dd36-4a78-abf8-67e5a4dfa4c0 CLINVAR:7950 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d4ee4c1-d880-427d-b69a-44a427d0a658 CLINVAR:7951 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 917fc14b-786f-43ae-bf9b-4bd1525398b3 CLINVAR:7951 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d06f3bf-7d54-4eef-9e17-a23d75ab7565 CLINVAR:1686785 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9408829-0ff7-40f7-b44e-431e2cfec20c CLINVAR:1686785 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f221ecc1-f948-49b9-92ff-05c44379d22b CLINVAR:1686786 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db3382c9-0b5d-4719-84cb-687aa816a228 CLINVAR:1686786 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2109256f-a430-4399-bf94-687383b78074 CLINVAR:1686787 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 899e1ce2-40d5-4174-ab18-050a279c4330 CLINVAR:1686787 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54d80535-45c0-44c7-a764-8fd3eed384b7 CLINVAR:1686789 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bb6cf82-dd2b-42db-bef2-48b07a613665 CLINVAR:1686789 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0dca0a-cf95-4d38-b501-906b950e9b9f CLINVAR:1686790 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 524da533-c185-4225-88b9-93a8e7bea337 CLINVAR:1686790 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a39ba1a-7eb5-4cba-9300-b42a6b22f6c4 CLINVAR:1686791 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90d32f62-ae52-4a88-aeac-c9a95121b066 CLINVAR:1686791 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aac9d70-75eb-4a71-8c9a-7ccf69a15519 CLINVAR:1686792 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb8951e5-f03a-4e23-ac03-e0ce39501d62 CLINVAR:1686792 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921beced-8769-498b-97f5-98f8c49cd3c8 CLINVAR:1686793 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 028f7430-6964-49f0-b29f-b6fb568862b3 CLINVAR:1686793 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6284c3d1-5765-4f95-be2f-0140e96404e4 CLINVAR:1686794 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fee924f7-a748-4eaa-9c70-653ad3afecda CLINVAR:1686794 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c7c50d1-4a23-4bd8-9f81-eb60b5688522 CLINVAR:917405 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee302fbe-a03c-48b4-9e9d-c6960cf8a8a2 CLINVAR:917405 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96a108f3-8ee4-4b69-b1bf-4304c5bf807b CLINVAR:871739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9eb58a2-cd10-44f1-8bfa-8fa9496d4068 CLINVAR:871739 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b286f670-3e82-47fe-92b5-6f9daab33434 CLINVAR:1693221 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77e3dd94-d1f8-45fe-ac18-900246b34a3b CLINVAR:1693221 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66c34a98-10b9-4bd2-a3e1-0d596438e2c2 CLINVAR:420102 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6614c39b-0fbf-4355-a9dd-75b594a603fa CLINVAR:420102 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be634251-30a7-4055-b8f3-b1b3c774299e CLINVAR:419722 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5d2003c-60cc-4ee7-9cac-2df1daea740c CLINVAR:419722 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c05dc16d-8e6d-4560-b346-18f3ff0d2893 CLINVAR:1693551 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 761beb49-b591-420f-a299-cc064720d78e CLINVAR:1693551 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df69a71e-0ae1-436f-9780-a869e7b76980 CLINVAR:1072906 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fba3722c-a0e5-4d15-b84c-e6ee07bd09cd CLINVAR:1072906 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f40e0261-de24-4e0b-af5b-6b3da43c060e CLINVAR:371305 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8a0b348-235d-48bd-b0c3-ef79abadb59d CLINVAR:371305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6098b81-62f1-46d6-b769-0ad25e78ae3f CLINVAR:403712 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfed1445-92f2-4d71-9137-3106a1e897f5 CLINVAR:403712 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5615ff44-f1e5-458e-a649-dbe11a59965a CAID:CA658795264 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0ec7ef3-d912-4eec-ae6f-955287197e4c CAID:CA658795264 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f28f7123-9014-4897-b855-186890878812 CLINVAR:934787 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c26c393-c359-433f-a87a-d4adf17428af CLINVAR:934787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2a633db-4022-4e1b-8751-3f876fcb26f6 CLINVAR:102819 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8084d245-a380-4a0a-aa17-6ddcbf320a35 CLINVAR:102819 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14dc0513-67c0-4ea1-92ea-121be8653e9c CLINVAR:280984 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd0be698-e072-49a6-b30a-0d3c653e41cd CLINVAR:280984 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 066e0dfa-e2e5-45d0-8e2a-c767fe67ed61 CAID:CA386954977 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11060439-7648-4804-a4bf-473ecedef656 CAID:CA386954977 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e2d2338-d49c-41e7-aeab-7ea8ac16e4eb CLINVAR:1338520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ee7d9ef-17e4-4809-a401-4ee74f0b1f20 CLINVAR:1338520 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0430008e-e52a-43cd-9575-40d6abd4e04a CAID:CA386954965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 267d0c7c-d38a-4401-a210-47ef2d45ba8f CAID:CA386954965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c97c0e0-aa46-4b90-89b0-216cc9b4df42 CLINVAR:447491 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ce18012-3231-4fb2-9b60-7cc301f9cca2 CLINVAR:447491 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d30fe2c-2772-4793-af23-992a2deb5e3f CLINVAR:447496 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fefff399-d3a2-41d2-a9a9-d60ad1cc8c02 CLINVAR:447496 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7221cd2-0080-4bb8-92db-d5c52d02cd6a CLINVAR:102529 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 945562a0-a258-4461-a7d5-b248141f56ed CLINVAR:102529 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd01c8bb-c2a0-4ded-bbb5-6bedc201c926 CLINVAR:1693234 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eea747c0-92d8-4692-8bbf-88c90b355d81 CLINVAR:1693234 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3afb4ee-9b40-4a8a-8256-16d86360f69a CLINVAR:102906 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d25168a9-e4aa-4ee7-828c-09ec9d47cff7 CLINVAR:102906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd84c9c2-86b5-4f0e-82d8-1a1e97097879 CLINVAR:102465 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7f50b89-934e-4987-9f58-983ff425c3a2 CLINVAR:102465 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b30a584e-0fd3-4151-a3a5-7bc2eae0afea CLINVAR:102470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc545abb-e752-46d3-8e97-6fb9efa77e16 CLINVAR:102470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eacc8ea-d19a-4d49-8d46-9cc09ce5537e CLINVAR:1691455 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd4a1cf2-c690-483c-b0b6-22ea950a9398 CLINVAR:1691455 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8823a334-d4ad-4b0d-8a7d-fa1c9900f51b CAID:CA16020935 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb2e4807-1e12-419a-8a44-bc1339c39630 CAID:CA16020935 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ebee043-5d78-4ce7-917e-dffa8e20ef69 CLINVAR:1691466 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27f7d54e-b9c3-4a75-abc5-86e556a2def6 CLINVAR:1691466 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4f59fe-d7b9-4944-aea9-f88e804d4910 CAID:CA399792054 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eca5f231-d2e9-4d42-b09d-8292305b35e6 CAID:CA399792054 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc986b35-2fc3-4621-865f-f14934f0900a CAID:CA16020923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26bae5e7-f8eb-4dcb-b897-35b25e557bd8 CAID:CA16020923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf590dd9-51f0-4ab9-ae73-5a03a5138d7e CLINVAR:102762 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53303fe6-c76a-4738-bca6-755ae631ee2f CLINVAR:102762 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d7fc57-4c64-4fbf-84d3-e21d617ad1ce CLINVAR:1691484 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf1672b0-eec5-42cc-8b04-5f911f114e36 CLINVAR:1691484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a17f3b88-a845-4c7f-8f7c-8087347d540c CAID:CA16020898 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c23f170a-5fe1-4e65-a1e5-133e5438f76a CAID:CA16020898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 622791a5-b55b-491f-b62c-5b859def8541 CAID:CA915940332 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c59ea211-a8b8-480a-b6bc-e3d1c907265f CAID:CA915940332 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd82b47a-3b4f-44ca-9aaa-457f40fa4d0a CAID:CA399794330 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7463914-6f02-4422-9933-32baf29f17c7 CAID:CA399794330 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46811324-bdc5-45f3-928b-75b04d3798f1 CLINVAR:1691487 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d920f85-3401-4d65-a336-8de0cceaedf1 CLINVAR:1691487 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b10d6e-dd03-4c93-a71c-0dd1123f0297 CAID:CA915940323 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 497ea47a-faf4-41a7-bef9-3fe641c3111c CAID:CA915940323 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d288313-a548-4c22-959d-3ee747dc147d CLINVAR:1691489 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f75424c4-ead2-4cc3-b5e3-93898a235389 CLINVAR:1691489 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a51572f4-468f-47e1-8b9a-8cbda278a41f CLINVAR:1691456 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b525a4a9-338e-4395-b3f7-ebba9fc28801 CLINVAR:1691456 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab272049-c88d-461b-be37-7baf5c47c1ea CLINVAR:1691457 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d75171e8-42b0-4d52-b177-234247bee927 CLINVAR:1691457 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54d79479-2fdc-432e-adca-30ec53cf09d8 CLINVAR:1691458 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f162462-c397-4be3-acb3-26f91225bceb CLINVAR:1691458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99aa8d44-2cff-4cb6-aec2-0627844d6b03 CLINVAR:1691459 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03a23a1d-0eb4-439d-a620-b05ac84c8359 CLINVAR:1691459 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f767aa4-9598-4b82-b2b5-db95e7ed6758 CAID:CA626684863 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42f40949-8b86-401b-9e9a-1e1a3a983390 CAID:CA626684863 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caa8458c-392b-4c1c-a8c7-074374d1382c CLINVAR:1691461 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16422e5a-1ff9-4f93-97e9-48f3773fb307 CLINVAR:1691461 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93654c94-9b8f-4e96-9099-a247df29bfc1 CLINVAR:1691462 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a9f6d5c-a087-4ed0-991f-864c506f39cb CLINVAR:1691462 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a682b62b-154d-468a-93cd-b618534b68f5 CAID:CA399804780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e3b1eae-5057-4968-8a7c-011c17946d4b CAID:CA399804780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c67a6123-962a-4119-aeeb-8f778d92bc39 CLINVAR:1691464 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9cd5fa0-7c40-4d0f-a149-86e48393466e CLINVAR:1691464 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1312514-bdd5-40d5-82f5-e08e330d852a CLINVAR:1691465 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58158924-8b49-4522-98cb-fd14b9b2b797 CLINVAR:1691465 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2271fbee-1961-42a1-97dc-10933b9f3422 CAID:CA915940689 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a660945-7223-463b-adb2-173b38c5a726 CAID:CA915940689 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 706b3901-91bb-4506-9769-246494377106 CAID:CA915940686 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf398615-6fbe-47b3-abfc-862afb890f0a CAID:CA915940686 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b835d2e2-758e-4c96-a726-6614832c0c53 CAID:CA915940685 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59de152b-a331-473c-bce9-3e95e628e55e CAID:CA915940685 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e797e038-5982-4ddd-adea-0889e63d3754 CLINVAR:1691470 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5ac1db0-8147-4680-b825-e1665315411a CLINVAR:1691470 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0589e619-0e5b-4665-b4f2-0add7fc5910e CAID:CA500261104 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98e32f02-9b7e-426b-a202-5e779f610bad CAID:CA500261104 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 124993ed-5af6-4d85-9fa6-2da356ac47c4 CLINVAR:627290 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e397fdf-bec5-40b6-aa45-8095f9fae9f3 CLINVAR:627290 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15a66a5b-81e4-45b1-85e1-a22f28ea069b CLINVAR:1691472 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3db52c00-42a2-46f2-b4df-9715e6341e50 CLINVAR:1691472 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72837221-a4b4-457c-826a-bd3c227a5aea CLINVAR:812734 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdb40d17-0985-468c-834f-1d4dcf23b8bb CLINVAR:812734 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac20b91-1a53-4846-9f3f-576aa2c0feaa CAID:CA915940687 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22c0fb08-0556-47da-a384-c47cbaf97684 CAID:CA915940687 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7596c6d6-24ff-4b8c-9acf-2afc599189c8 CLINVAR:1691474 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a88b913-3a69-4335-bc16-1a058f3d4db8 CLINVAR:1691474 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12a8d101-a7bc-4675-ad1f-fe9170189146 CLINVAR:850885 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81ac3511-3945-48d0-a1b9-2f4afc2d53c5 CLINVAR:850885 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b1ba49e-ef45-4cf0-a022-60366775eaf1 CLINVAR:1691476 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce666ee7-6db4-4e82-b62e-bb76c0f69621 CLINVAR:1691476 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dea0f0e-45d4-4723-b876-5074bd1fe484 CLINVAR:1691477 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac03d2e5-59f4-4d95-a378-dd565b28f133 CLINVAR:1691477 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9efc7050-5d8d-468f-ac2b-11d5d11a5baf CLINVAR:1691478 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c022c6ec-dabf-40c8-b387-98ea7cc3499e CLINVAR:1691478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03eef3f8-b0f2-47e4-bad8-9a34186afa48 CLINVAR:626980 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6db9e7bc-2126-4f0c-9217-934600c67b2b CLINVAR:626980 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf391f8-04ab-4a2f-b7c0-32fcd1745db5 CAID:CA915940605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c18b9e3-6b0b-423c-8830-ce1d1ca297d1 CAID:CA915940605 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7590502d-e23b-40ff-9830-3265a2776f46 CLINVAR:1691480 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a4c168a-724c-4e76-bbc2-fba18f493c71 CLINVAR:1691480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2685c30e-ff7e-4101-b9cf-30ded09d94cc CLINVAR:430539 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19f46e63-d3fa-4eea-8d8e-c3865ac35470 CLINVAR:430539 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ed2845c-f03b-4eb5-9278-983d387aa07e CLINVAR:1691490 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7671f6c-2d48-41eb-8a00-378d8703f293 CLINVAR:1691490 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1bcdc28-ad95-4a13-840d-506bc376236c CLINVAR:1691491 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac25e563-1e81-43a6-9aeb-700c66d19baa CLINVAR:1691491 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c99e942-701f-4bac-ad42-8c66f3c431bd CAID:CA915940808 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffee31c7-594e-468f-bd22-471e7d5a8a0d CAID:CA915940808 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cb68f5c-dcc4-4958-a165-60cd3234233c CLINVAR:1691482 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c357c7b-d880-467d-af40-3ed9fa1e86a7 CLINVAR:1691482 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645c31dd-ab37-48bf-8274-2634eb33f106 CLINVAR:1691483 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1517178-f057-41ae-9613-6f7a8e7a2244 CLINVAR:1691483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f913648-1575-48d2-bc48-07c0c3872263 CLINVAR:102737 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e232120-32f7-460b-a94e-50c422d9a117 CLINVAR:102737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2066b4-5c90-4207-8571-22cff5491104 CAID:CA2573051040 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0273f05d-4e07-4f66-9241-ffc06fce5d7e CAID:CA2573051040 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5e5031-a675-493d-9fcf-d7bd0ab21e00 CAID:CA2573130154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d46c0592-2fb4-4ff6-8379-79f592d1e2a4 CAID:CA2573130154 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 114a6181-f745-440a-af5e-9c4b3f40abab CLINVAR:1013621 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 631ac28d-2d8b-4ecb-822a-6cf571254789 CLINVAR:1013621 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c650a762-326f-43ef-a3f0-0b00b7b3fdfd CLINVAR:988835 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 291cb93d-1294-4f9e-a440-a23234d6dda8 CLINVAR:988835 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974542bc-386a-4820-92df-ada09c3c5b2f CLINVAR:812739 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 620a8889-824b-41f2-8cbb-0202d9e649a3 CLINVAR:812739 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5318f33-f7d0-4222-a68b-3081cc97e0e7 CLINVAR:1479078 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d46ae9b-cc54-489b-80df-b41221c8d0b6 CLINVAR:1479078 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1649b101-4b22-48fb-93b1-49e04c55f5ae CLINVAR:1693219 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd927414-7182-49e2-ac35-47b5e58cce4e CLINVAR:1693219 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd332904-6d8f-43f8-8e99-15a60f6ee5d3 CAID:CA2573051300 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12e82237-09b4-492f-9422-caac5ce8e7e9 CAID:CA2573051300 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa76273-e2fb-464b-8111-87386c8bba2b CLINVAR:143485 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5458b43d-82e8-464a-b4cc-0145577f4ddd CLINVAR:143485 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4ef5638-b71c-4a5f-861f-33cf2a83e2a9 CLINVAR:143345 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a04faaf9-ded1-497b-a913-1a13138c9cd1 CLINVAR:143345 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038be85a-d661-44f4-9e94-3ff6868208fc CLINVAR:11835 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0c11434-12bd-4d03-b9be-21bffa512193 CLINVAR:11835 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c80af26-dbf1-44cd-87e4-f4af50e15627 CLINVAR:11809 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44d4ce1a-0a15-486d-93aa-c68fcc755986 CLINVAR:11809 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b75ec3-036e-4574-8d79-344779093e31 CAID:CA915940209 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b027d6df-978c-47d1-8591-c535b5a8503b CAID:CA915940209 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1ed2843-5903-440d-800f-72cc03ec5adc CLINVAR:102537 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edea6166-e137-4684-832a-b0d44d653feb CLINVAR:102537 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120e8031-34d9-4d8b-8727-50f9ec4129c4 CAID:CA16020907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71feb5d5-466a-41d2-acf1-e216ece9906f CAID:CA16020907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b929cf-b88d-4e5d-8186-0ec86ec98f5e CLINVAR:102920 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aecb67a0-6270-4394-939d-3a8a8844436a CLINVAR:102920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ab476a-6543-40ad-ba3a-3cd32bf5621b CAID:CA16020796 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9aff846-dd62-4b54-8417-d55e8fb9c8f0 CAID:CA16020796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3881b789-9b48-49f3-8cd1-670841865206 CAID:CA16020744 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7f3f580-2c11-4a02-bae0-f50751d237e5 CAID:CA16020744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4985d5f7-2a18-4382-b1a0-a431cd4bc7fd CLINVAR:371373 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8723162-1e6a-4f19-ac89-5a122041751a CLINVAR:371373 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff55c23e-7578-42b7-b227-0ce7ab353d72 CAID:CA16021007 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b778305-76fd-4cc0-acf1-869dcb450c71 CAID:CA16021007 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33dc000d-152d-47fd-b524-37425c46c51e CLINVAR:102615 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d623ac29-ae64-4349-b3d7-cdba5d5f6066 CLINVAR:102615 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbaf6d3-9a63-4910-a9f6-5b1b9d13e219 CLINVAR:102622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efe7fc26-7c94-410a-a184-f799491b2322 CLINVAR:102622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44c0c097-c705-4a92-8b80-a3bb62d5e823 CLINVAR:1699992 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d0119c4-3abb-4cb1-96f0-f05045287884 CLINVAR:1699992 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9002657d-58ac-491b-8907-dd69cfa1bc1b CLINVAR:189082 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6012ec8e-c0f4-4eba-83a5-50370e609451 CLINVAR:189082 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d784724c-6806-4731-9b15-67614521b2d1 CLINVAR:1693549 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e93d5bc0-cf6f-4100-83e2-4acf4489b3ed CLINVAR:1693549 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08ece2a-3305-4a31-acc8-37b16a2469af CLINVAR:556117 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a447945-e268-467f-8279-7dd0c7228742 CLINVAR:556117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c946ada-3a4b-4bf6-8ad4-816a4a5b68ac CLINVAR:1693550 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63afc9e7-04d7-4091-9877-6898529a8257 CLINVAR:1693550 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f4d091-4ab7-43a2-8d3f-8792adb0f0d7 CLINVAR:988811 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 826f0568-3db6-40ab-b979-dfaaf915606f CLINVAR:988811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc6e8da2-1097-4393-9537-b1aceb0fac79 CLINVAR:1396349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13531204-b26c-4998-aa72-54cab00e76ba CLINVAR:1396349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb00441-e4e0-4ff1-b9e3-3c2707298212 CLINVAR:9647 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 123df62a-fa41-4f44-b59c-db7bb8d2c6a0 CLINVAR:9647 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1730c1a-f38f-421d-8df7-e4647c1e2629 CLINVAR:9644 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 420ebbb7-3ba8-4fea-92cd-4071fac005ad CLINVAR:9644 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a9c25ee-1bda-417d-be17-7b084cdd8d4e CLINVAR:425040 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d245e581-e156-400c-a4fe-28ce02030bf1 CLINVAR:425040 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22de196d-cb79-451b-9474-102416f23b84 CLINVAR:207248 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09644d3e-407e-4dc4-923b-a1d630849dca CLINVAR:207248 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9471e084-5d5c-421f-94e2-0b312f748543 CLINVAR:236302 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9161f0e5-cb1b-4c2a-b3b6-33cb31125924 CLINVAR:236302 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1785ccc1-ad1e-4248-8081-bb372e97f7ed CLINVAR:167092 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65eb4920-f81f-4336-a00a-67405dc232f6 CLINVAR:167092 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53c269fc-c2a8-4386-9011-5ddc0a7a1bd6 CLINVAR:160079 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f28270c6-2326-49f4-a03d-837632ba5067 CLINVAR:160079 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b95523-f77e-4fe8-a7bd-12064ca90aeb CLINVAR:9646 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 582b0d7a-176e-4d74-a3a5-069eda2c2166 CLINVAR:9646 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2400eef3-b651-4471-9b27-7319bd4986b1 CLINVAR:65921 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bc28394-e64d-4c84-83b9-1c4bd15a7195 CLINVAR:65921 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63cd38a3-72fc-4b76-9d8b-503bba1c12ed CLINVAR:986501 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3b5ad33-0a9f-4068-bd0c-2650133f4d73 CLINVAR:986501 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4f50cce-6b18-4a4f-9790-b3b9291c1b9f CLINVAR:217366 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17b4d205-4a56-4601-9745-36de62a6431e CLINVAR:217366 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32d04b2a-ff4d-4c60-b8b6-65391e0bcf6d CLINVAR:217365 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 663ae281-52ce-4bec-b087-772bc406617e CLINVAR:217365 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98d81eba-6c2d-450d-bb46-ab3bc11696b7 CLINVAR:160214 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97cc406b-ef6a-495e-a4c2-8bb12dfc19d3 CLINVAR:160214 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a800c34c-1363-427c-84d2-58dae30bb07c CLINVAR:156677 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af7a969f-d561-4e74-9298-b7562484a44d CLINVAR:156677 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d018af94-6730-4627-b30d-d7e39a9cff15 CLINVAR:156120 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46f0f1b9-01ed-415e-ae64-6e171302f52c CLINVAR:156120 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 527e4993-2519-44d0-a8ef-cef86bd502fd CLINVAR:1693553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 624411d3-beaf-468a-a665-7846cfd0f072 CLINVAR:1693553 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48150a32-3cd8-49be-a11d-c4cc330d260c CLINVAR:143738 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c0dec3f-bec7-4eb6-80b2-cf15541eb8df CLINVAR:143738 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78a45390-6995-45ed-aaa8-4c68b46a8ca5 CLINVAR:156124 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 309fcac0-a15f-496e-9234-908cd7d5af36 CLINVAR:156124 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29cbffa2-0002-44de-913c-fe7a277849aa CLINVAR:191364 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ab57059-8272-48a6-b8ce-06e846f3b2e6 CLINVAR:191364 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14867ee3-990d-4bb3-bfb9-bbee3a848e69 CLINVAR:1066009 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 551df1f3-3658-42c0-8c2f-bd15ed0f4cdc CLINVAR:1066009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a03bf4cb-1c57-427e-9bd8-ebca3248e5cf CLINVAR:155881 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f9a3ab2-a153-4f0a-85c1-b9638bdaf3eb CLINVAR:155881 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adea6916-37b6-4c20-88a3-e08d55bbea7d CLINVAR:9698 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4bce5210-f089-4bd4-a38b-bc7debfaef78 CLINVAR:9698 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 346c8dd7-ce27-45e7-84e6-e014d88fd351 CLINVAR:9691 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2b5fc52-6cc4-4119-8f03-70e5603c5621 CLINVAR:9691 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 750c5605-06f0-4360-9252-a27342bbdc22 CLINVAR:65515 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f3337d7-520d-470d-af0b-9c28a5cf6279 CLINVAR:65515 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 360c58f2-d45a-4780-8425-a990845f14ce CLINVAR:9732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9620da5e-da00-4ac3-b9bc-81834dc3cb19 CLINVAR:9732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea99b24-16cb-4679-84a7-e4c8440ff6be CLINVAR:155889 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d5812e7-70fa-4d96-91b1-7190e03dd43c CLINVAR:155889 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 753a9b4b-120d-4f77-800f-450382d43c6a CLINVAR:9693 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40fe11ff-8010-4b33-a136-6ed7ab7066c9 CLINVAR:9693 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9620b5ac-1974-4ec7-9baa-04d1c5681c4d CLINVAR:9711 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9dad2b3-641a-45c5-b0e3-94f0b126b715 CLINVAR:9711 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84a6820d-2946-486f-9da3-a88da7773378 CLINVAR:9685 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 752faa80-202e-4ea9-be55-0e5027e1e86b CLINVAR:9685 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c06221d5-2893-477a-8aaa-85e91282171a CLINVAR:9692 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a22de934-986d-4ea2-9811-d8f49302795e CLINVAR:9692 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a90ad51e-03ba-4295-ac77-b3090ef0a4ed CLINVAR:9548 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc6c0de5-01ce-4aa3-b402-d55f7ad72158 CLINVAR:9548 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1823f20-acc0-47ce-a9be-ea749bfd9283 CLINVAR:9576 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aae8c016-87f4-4be3-bd92-05cd7a9244d5 CLINVAR:9576 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f839a8d6-fa01-4443-9584-85bb5f4dd60d CLINVAR:9731 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce6da2e0-9fea-46b9-ac04-2c98f9bef5f2 CLINVAR:9731 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10623109-adc7-43ec-ba14-1306edda1404 CLINVAR:9703 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3161a9a7-d2ae-401a-9e31-9fcb97caf0b4 CLINVAR:9703 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 486a7de5-cdd8-483e-9e39-38d6077a7cca CLINVAR:690280 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32e44e04-326c-4421-b318-3a7a8849ca50 CLINVAR:690280 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c57432-7eed-4c59-9597-a7b8a9c19b79 CLINVAR:9708 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92d88ea3-32f7-499c-a138-3fdd75087818 CLINVAR:9708 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f34472d7-03d7-41a2-b571-c5cb86273790 CLINVAR:9640 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92f0d2f2-a6e7-4b31-92a7-824e9497b7be CLINVAR:9640 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72896cfd-2f20-420e-b18e-83590b1a8758 CLINVAR:988857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab529884-4fe6-4968-a9c6-47949f8530e7 CLINVAR:988857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca79b025-8d5c-4673-9023-893715329388 CLINVAR:226334 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52f8ebe3-2435-40e0-a517-df52a75b4b6a CLINVAR:226334 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d742ce-2767-4d31-8b78-e961fd8f6959 CLINVAR:251456 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af1e6fd1-9de4-413a-8c16-5e3f6eb124c1 CLINVAR:251456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2c5982-071b-4677-81fa-dfab1ad46bac CLINVAR:251457 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27b69dae-fcc1-490b-b42c-d37a7969560b CLINVAR:251457 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8084e49f-ea9e-493c-8067-09fcb9025be4 CLINVAR:251458 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61973906-4c5e-4c24-8858-939a0d03bbd3 CLINVAR:251458 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d439a131-0681-4554-af1e-1b2be2296eea CLINVAR:251488 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 889840b7-6667-46de-9354-e7b54b07036f CLINVAR:251488 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4760fcb-d89b-455c-9905-a63c45c57ee8 CLINVAR:183101 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdb98858-9438-47a5-bba7-2532b7597118 CLINVAR:183101 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f70a6ad-444f-4fbc-a5fb-b871dd18a931 CLINVAR:251903 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e3a3c4a-6f31-4128-8375-f043f8969e1a CLINVAR:251903 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ae05c6d-a3f6-48ca-8979-d4b262cd5146 CLINVAR:496019 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d87c07e-2b9c-4e29-87bf-fc2c29c8db29 CLINVAR:496019 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4e6e26-f8d2-48ca-8aa3-66f4eee7ba01 CLINVAR:251904 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1aae29f-447a-467a-a20b-8a51a78f3ac7 CLINVAR:251904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055c4f0e-ed8f-455c-a57d-fd22fd03f0bc CLINVAR:431531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05983439-41bd-4122-9d1e-ec77fd4402f2 CLINVAR:431531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65d38469-033c-45d7-ae4d-b45adb8339ae CLINVAR:3686 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82f14d21-968b-4909-a8f2-ba208045e0ab CLINVAR:3686 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75287fa6-936b-418d-b96c-98e78de38a4c CLINVAR:226329 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1c42a4f-0096-4acf-9f17-8b72e6d0c54a CLINVAR:226329 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ffd27fc-a3be-4ac7-a9b0-207d56f9c4e3 CLINVAR:251356 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd7a1df3-8f9a-4fbc-a8a5-1be4cfb3ec87 CLINVAR:251356 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89b61e00-f449-4a09-af67-fc02ec8024f5 CLINVAR:183092 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11f9511a-688a-42b8-94c0-682507ea6769 CLINVAR:183092 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e585412-b4ab-4e7d-91e3-8b947566170d CLINVAR:161286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4857e6c2-6701-41e3-a3fc-ff69f26ada13 CLINVAR:161286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a5f3237-08ab-41dd-98a7-60ebc34bc60d CLINVAR:586794 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2997dc15-6ef0-41f1-86b5-ab87fa89566f CLINVAR:586794 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f600b8e8-a9f7-4d18-9fc9-305a13949185 CLINVAR:1700000 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb193c70-bfd2-4c28-b324-2dca03e5befc CLINVAR:1700000 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d470fb4-b2c4-4b31-9151-fc2663c432a2 CAID:CA2497030023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51d0e2d3-2ed6-4fa0-90ed-199bbebb4f0b CAID:CA2497030023 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f50e8bb-37dc-4675-b718-ae4d1f259021 CLINVAR:1315998 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27513a3b-1fb9-4fea-b320-f276fa5bab4d CLINVAR:1315998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9769c155-e47b-46bd-ad48-78fb3f28068f CAID:CA2573051042 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a56067f9-1608-4c33-abd6-8f4c503a88bd CAID:CA2573051042 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d339694-0c49-42e5-8e18-83c6dadfdee1 CLINVAR:14931 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f58c12f4-f273-4d72-9f6e-72564176cfc5 CLINVAR:14931 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d20c59-de85-406b-b4a1-6b9d1fb26ba0 CLINVAR:627101 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae6d4429-2b15-4ffb-a01e-14b86ed5d551 CLINVAR:627101 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38393fbd-0e12-4348-b416-37705d7911fb CLINVAR:561235 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6724ed37-1e46-44fe-9997-a579fb5163c6 CLINVAR:561235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efbedfa9-3342-410c-bed0-258b21661f5f CLINVAR:1194557 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07bccc89-4418-47c8-b1d1-48d4bbe7f40b CLINVAR:1194557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3edbbdca-d568-4216-9f02-0c495c1e5c32 CLINVAR:1488717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fc927e5-7336-4554-8c5f-66714d15b2f6 CLINVAR:1488717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54e76a15-d2f5-4168-9f2b-1815175e4d6c CLINVAR:1073521 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27df4507-53d1-4d54-8d4c-14058492fa8a CLINVAR:1073521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b3e123-7c00-43ce-b2a8-28e44c046ae9 CLINVAR:943551 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe1bb4a0-e2a3-4733-9a43-9caf4b0dbce7 CLINVAR:943551 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc582668-bfec-492a-8c1d-1941fe8e88d9 CLINVAR:561225 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3dda107-0328-4c78-90c7-8559d0273622 CLINVAR:561225 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 359d935f-1fc0-4512-9dc3-45a75e4329bb CLINVAR:1459069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c16cf2af-2520-4c6c-94ef-df5a028e43e9 CLINVAR:1459069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1de6f94f-958a-45da-9f7b-8334a6636dcb CLINVAR:666187 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1af6cf42-216e-46f3-8093-d76b5d260dcb CLINVAR:666187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 886daa1e-03bd-4d53-8f04-2eca89c23f4b CLINVAR:532666 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 950252e6-fdcd-41eb-9c48-380780b3e8b2 CLINVAR:532666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bf9520a-537c-4fff-a14d-9fec519f0bcb CLINVAR:660838 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12ad51ef-3e02-40b7-9f64-6191d39a7383 CLINVAR:660838 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a0e744-4eae-4377-813d-7f3fe61693db CLINVAR:843935 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ebc4e17-64ed-443a-b070-6ca962a0a13c CLINVAR:843935 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d58067d-bf02-4969-b7ce-b84d27fa46f6 CLINVAR:861043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5e93a1c-2596-49dd-8500-8940e4c03cc2 CLINVAR:861043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c38fcea0-f271-4490-9b3b-0bc0411db5d4 CLINVAR:898729 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 576645dd-7718-4ca8-b58e-2216b3f41a93 CLINVAR:898729 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8794565-1ae7-4279-b3ef-244eda69f6a7 CLINVAR:747644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd981254-322e-4bfe-bba8-5af945e46e34 CLINVAR:747644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 674ce99f-6c70-4f41-9c11-495f2254287d CLINVAR:1069299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f43d25fb-65a0-4ec5-a71d-af57531235e1 CLINVAR:1069299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29ea282-316c-43a3-a7c7-3474451b02e2 CLINVAR:1076589 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 481eb9f4-70fb-4b6e-b393-88e419419836 CLINVAR:1076589 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5609a90f-175e-45e9-905d-fe1af16ee8a7 CLINVAR:239058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1fed9b6-f277-4764-a8a2-a6689bb902d1 CLINVAR:239058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4738d99a-ec45-41bc-9f10-44f3c1f2de81 CLINVAR:1165599 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e51e798-99e5-401a-a594-e95587f2a2bb CLINVAR:1165599 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c77bd7f-8723-4772-b4f2-e14e54b54ee6 CLINVAR:812740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54c52e28-ea07-4e33-99d8-cd2c13c305a1 CLINVAR:812740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93791f35-c086-4692-a919-686bfe22ca6c CLINVAR:1013620 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3f563eb-13e0-4062-beb2-a233b8d4f587 CLINVAR:1013620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3501ea69-d30d-4231-ad1c-12878e170a51 CLINVAR:580539 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aec64a91-1ba1-4414-9a8d-6abc41a3d0e5 CLINVAR:580539 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1b0d9cd-2e9c-40ce-8db0-90286fd38b77 CLINVAR:941820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba8033ed-0b9f-46f0-9e23-be5e057345ab CLINVAR:941820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 535ce99f-3ff9-447f-be06-3fbac31910cb CLINVAR:1000131 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a605868-b7bc-409c-9541-282a447c062f CLINVAR:1000131 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 159ea9d0-bcd2-4a79-a687-2dd56ae34dcf CLINVAR:463976 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d465e6e4-8fd2-4664-8042-6d7078e5138e CLINVAR:463976 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db9fbc38-a860-4f2d-896e-5b01809d7e56 CLINVAR:706138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee989b16-2022-4adb-84f9-37ec7ed6a472 CLINVAR:706138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d5db50c-4a5c-42f3-a4c8-9dac944643ef CLINVAR:1012038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8eac3f8-b791-49bf-afdb-1040c4b9f622 CLINVAR:1012038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f29c851-009a-451d-ab47-c66d55f425eb CLINVAR:627081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f71eba6-76ae-46bf-ba06-cf7ee29e1079 CLINVAR:627081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b758222-7392-4467-9d5d-55396ee38a37 CLINVAR:4468 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fe11064-4570-4e15-b932-8fdde9678a6e CLINVAR:4468 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff719ce7-f4ed-4fd6-9fb9-5be224a15d33 CLINVAR:690480 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42f1435e-15eb-435a-a437-d6060178be7a CLINVAR:690480 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d549512-00d6-4e85-9428-6c7e6e9c3bdb CLINVAR:412119 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae8d5047-6183-4749-a013-db9ea0da09cb CLINVAR:412119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6221e7-6edb-4854-9c69-c7d3f1df588e CLINVAR:254350 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b111671-2e01-4959-8f80-90e66f1e8987 CLINVAR:254350 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eacbc67-48db-4571-a1d0-36a8e0175478 CLINVAR:690454 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6122626b-a5ec-46e3-b024-db92c6ff6e6e CLINVAR:690454 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e10ab9ef-b97b-4303-a155-e038658e0d09 CLINVAR:254344 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 099ed3e4-7076-4e4f-a5f3-e85e732fa1e2 CLINVAR:254344 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1edb36fe-1890-4a98-93bb-69d6ca93696c CLINVAR:254287 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ecb3d4b-431a-4235-bfe9-b55030cc7792 CLINVAR:254287 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6df25166-2b26-49a6-b595-cf579287cadc CLINVAR:429113 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdc7ca77-6ba3-4c37-a9f5-9f5bfbfa3c73 CLINVAR:429113 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddcdc2fd-ab03-4895-ad6c-34a0ff84d5f8 CLINVAR:254298 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d90eb01-e500-4a4a-b77f-98e0879b2018 CLINVAR:254298 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4632525-a35b-4f79-8428-541988605cc7 CLINVAR:254355 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4aeaf1c1-425e-467f-82d1-67ad44bed036 CLINVAR:254355 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47b06d3c-e464-4ef6-9cd5-b81417337f19 CLINVAR:254310 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e376cc6-0ef8-44b3-83eb-bcb9d8ddaa08 CLINVAR:254310 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a17d46c-64d6-4bf4-bd29-7d06245cedf7 CLINVAR:429148 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03d739d8-adbc-4570-bd92-58670a16e49c CLINVAR:429148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6454d9e0-8009-4a92-8d3e-1e9c3c51c5e4 CLINVAR:429116 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d4d8b05-7558-40f1-9bfe-0006f1d4c4df CLINVAR:429116 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c2f634-5939-4106-b4e8-43dba432cc38 CLINVAR:477261 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f69e519-05a5-48d3-b5b1-8d5576d22c5a CLINVAR:477261 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf70a6fc-b430-48a8-af4f-95ea1808e7ea CLINVAR:436614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bed6a6da-ed85-4f14-922c-79e7c4a825a4 CLINVAR:436614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b4407f9-cd80-45af-82aa-ceb5f13dbf14 CLINVAR:627384 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b4e382b-c61d-44d5-a3e3-75f6025e1ac9 CLINVAR:627384 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6e448b8-bfa2-4fb4-acd2-ba1b1170a0fb CLINVAR:575111 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26b167fd-7932-4f58-acd5-52d188f64355 CLINVAR:575111 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80294ded-c36b-4ac1-a6da-9ad7746c9b91 CLINVAR:1695375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3e4050b-8787-4222-a6aa-b45cf42caf30 CLINVAR:1695375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e1615f-3dc6-4cdf-be50-c3544e5a8506 CLINVAR:464008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbe19c34-f786-4c8d-ab59-cefe8f89f357 CLINVAR:464008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8766eb-c625-42d4-9ace-e9a7153c8022 CLINVAR:574330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b3844c6-9231-482a-8af2-1a4cfb62dfe4 CLINVAR:574330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6920963e-2538-4ef7-a6f6-4ef27d1d1a15 CLINVAR:580203 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen effd74fb-647d-44c2-adf6-bd5e67ac023f CLINVAR:580203 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b35ee6-4766-465b-bbdb-054ed0737dd9 CLINVAR:650411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47cd6ffe-e887-471c-bec3-bf4e086a3c1c CLINVAR:650411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47916eb1-f6e0-4907-a7af-5031b689febb CLINVAR:566588 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cc2af14-adcb-4368-8e3f-49a3a7b4bab0 CLINVAR:566588 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b92a96ec-ef80-487e-a029-a95714dba729 CLINVAR:649946 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec1f3302-ffa0-4bfd-b870-7dc907004221 CLINVAR:649946 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5963b973-1930-4431-84d2-0407a7b7a7ba CLINVAR:392183 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c0224e1-9da0-4871-af86-45f0b73cd1fc CLINVAR:392183 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10414db0-c467-4727-aaea-4857a573036f CLINVAR:242130 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8a784bb-8c29-45b8-b724-9ca398e75656 CLINVAR:242130 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cec5e91-168d-43df-b6b3-824506cf36a3 CLINVAR:947388 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afb04135-239c-44e5-8825-501b83d58e5c CLINVAR:947388 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd7b2431-6d53-402f-a178-2f987b2f9176 CLINVAR:412120 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa904702-31eb-40b8-aed5-492b97692586 CLINVAR:412120 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c8184b-e3c2-4fe8-89ca-d56bac7a5f28 CLINVAR:242076 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9e22578-9cda-4485-ae6e-73910d84b03e CLINVAR:242076 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 326621da-cc5f-48fe-8120-551dfff3bbcd CLINVAR:477260 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0369c30-148c-41cc-9667-20411b84c9de CLINVAR:477260 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb9d8483-dfee-42ad-832c-c54df0c41935 CLINVAR:690445 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 164c292c-1239-4bc6-a53e-11f1d36c69f4 CLINVAR:690445 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6555dd79-d7a2-49cb-8211-8678c439c269 CLINVAR:133202 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c63595ba-eff6-44b0-ae6d-c8888a942d97 CLINVAR:133202 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9fe2bd2-0199-4b89-b0dc-7488ade83a13 CLINVAR:478159 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b72f3f93-0d69-4a59-bc41-87c75150c011 CLINVAR:478159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf1bb8e-a425-4b7f-9d08-6c73396ca206 CLINVAR:133174 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5067d9cb-dfb0-44a6-abc1-65afadb00a4d CLINVAR:133174 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bf5990d-3125-4d45-b03b-9e1b3c2bf4c3 CLINVAR:65981 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ef66adc-2ba4-42fc-8be4-03b30a822ceb CLINVAR:65981 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 752348e6-20a0-4a5b-9f42-175acd108788 CLINVAR:133028 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80d716f6-0f86-4fb8-b406-6d1fa4f3a57e CLINVAR:133028 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86be4011-9d5e-4b93-9438-25bebe9d5cd7 CLINVAR:133012 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bce404e0-ddc9-4bf2-af8f-af9416413c2a CLINVAR:133012 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b78130-a591-4106-810f-52cabcbcd1da CLINVAR:133098 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1f5a291-23f7-42d0-bc4e-6036293270ef CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa828dce-267f-42f7-8423-ab4f1d30c186 CLINVAR:133074 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1818387e-a757-4741-a945-e8fd9ad7fef2 CLINVAR:133074 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7766d351-2687-4f75-b3a1-b3b028b10af1 CLINVAR:133072 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a6b10df-0baf-4ce0-9a35-46fe6bfb7aa6 CLINVAR:133072 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c5c6d7f-e6fc-4040-8305-52aac6c52dfe CLINVAR:12978 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54a12cef-fc18-426f-b38a-31866c85c11a CLINVAR:12978 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c2b7ba4-1257-48e8-bb00-7c33620a47fe CLINVAR:133240 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 735b899c-30e8-4d29-ab3b-56474597ef37 CLINVAR:133240 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4659f799-a465-48a3-a072-8f4602e450ad CLINVAR:65980 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4634279-ddeb-478a-a490-d9c9b4c6b5e5 CLINVAR:65980 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ef6ff7-3fba-44d0-8293-4dc0e9c2b045 CLINVAR:65979 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fde02ce-d3b5-4045-b307-b3e89abd06ca CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e7ccb6e-cf4e-4363-9120-2d05b45fc6bb CLINVAR:12966 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96e16cb6-4307-4616-b0a9-e971667764f7 CLINVAR:12966 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7156e165-fe61-4ee8-8414-cd6f7791f465 CLINVAR:12970 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d42f4623-f816-44af-808c-c569ae143a39 CLINVAR:12970 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbeaeda0-89b2-42e1-94aa-5a74bb781dae CLINVAR:133189 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ca1f708-10bd-431b-b676-133b3f761ddf CLINVAR:133189 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb243ce-e5b6-4243-a1e2-4a7ec4fda2c3 CLINVAR:133183 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2bc36bc-4d0e-4f30-b670-31ba6d3631f3 CLINVAR:133183 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f9c3d9a-d921-4add-b7b1-d5a0f33c4c65 CLINVAR:133180 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a22f8b0-04e8-4082-9b82-cb7c51133000 CLINVAR:133180 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9352e364-973d-4129-8fac-7831d70b836f CLINVAR:12965 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a69dc70-57be-4784-aac0-e94d4b8bae2e CLINVAR:12965 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d39bd17-ef55-4081-9563-d9355019c39a CLINVAR:198090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ac06d16-b478-47fe-b60b-5632f1dae785 CLINVAR:198090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47446c08-acd5-492c-adf7-b96beb7fd08d CLINVAR:448981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b47a677a-f86c-431a-9e1c-baab3193ecee CLINVAR:448981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84c2d4a8-c056-49ba-9c83-3237c0ad63ca CLINVAR:932849 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ae5bb2d-f70f-480b-a402-c9df4179677c CLINVAR:932849 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e36b229b-eb67-4dd5-9de9-49b105f314eb CLINVAR:932850 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdd7dd53-a7b5-4658-bea1-6b75a579e708 CLINVAR:932850 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 909dfa7e-0ebf-4577-8ce1-9f6320d51d1e CLINVAR:840694 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c3def54-6d5b-431d-8548-85bb37a5fda7 CLINVAR:840694 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49906162-5205-4b74-a9d8-0795498d132c CAID:CA397723954 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5c53aca-d5c2-450a-934d-692be38725db CAID:CA397723954 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1a16611-9a8f-4149-8723-0a9f4973a751 CAID:CA1139768925 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84970956-485a-4e9e-a249-c3b5c6cbf30e CAID:CA1139768925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2b52b2-96bc-4eab-8390-6b29600a5c7f CAID:CA16020958 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51359943-a507-4163-9b33-e2ab116ff51d CAID:CA16020958 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9be06db5-9bd2-4eb4-95ea-8403d68e4df8 CLINVAR:102522 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 110c76ea-b4c3-42e1-bbd2-b60db7df8d41 CLINVAR:102522 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3797c9bb-e578-4fa1-9791-5b3e2cf86581 CLINVAR:102524 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cef276f4-45f5-4686-932d-e0447093c80d CLINVAR:102524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dd268e6-7ffe-4ee0-ae84-c93894f7244f CLINVAR:102548 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f168d92-8b98-430e-bc39-35ee00be1a16 CLINVAR:102548 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b96d6a46-7e08-4177-bf52-e25aa87cde31 CAID:CA386304006 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86b18596-9517-4cde-88d9-d15d690b31ef CAID:CA386304006 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c188d333-0514-479e-a7c4-6c61907c9e9f CAID:CA16020928 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5653d3bc-ec03-4b4d-bdc6-7829ff6f1f2e CAID:CA16020928 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b690b80-8e10-4d80-a5b2-223d5c175ea4 CLINVAR:102855 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59f9f66c-08b7-4c21-b363-a90c9c73e837 CLINVAR:102855 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b8b669c-8f20-48df-a568-9d2ca5fdbbbe CAID:CA386493446 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c31e3cd-8585-48d5-b12b-3241351bda2b CAID:CA386493446 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0883f1c5-5694-4089-a99e-b8a9bc4b1e4f CAID:CA386493436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c58c000-2aa2-4197-931c-3901f68524fd CAID:CA386493436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5677cc4c-8f5d-4d66-b395-0359be2970fb CLINVAR:164401 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 404ec1e5-6da1-4665-a5c6-0eb3609405d5 CLINVAR:164401 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 855ee8cc-f564-4449-a51a-e7a4150fa5b8 CLINVAR:43098 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34e8f1ef-3925-4acd-a415-57dfcbd65d1c CLINVAR:43098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 522acad5-1e4b-44c6-89b0-a83df0954aee CLINVAR:177627 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f64362f-ebe3-43ad-a076-cffebfac7d15 CLINVAR:177627 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9a9957-8d3c-41d3-8d66-2b8ea8757d09 CLINVAR:181267 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbc4e42e-d17f-4091-9b17-f8024920e404 CLINVAR:181267 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a30fbd-3d24-40e7-a5c7-d3c7871690d4 CLINVAR:42834 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1995ce24-ef90-407c-8c81-9b858ec79048 CLINVAR:42834 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bf5f266-f68f-4c06-9ee2-a1a90d5006bc CLINVAR:228918 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6d50a35-2349-4acf-b18c-240d650f4d54 CLINVAR:228918 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a2d4bf-bb3d-42a3-b0f8-4bc5106bc658 CLINVAR:181349 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e597e35-d1ef-455c-8808-5a8a0add27c4 CLINVAR:181349 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c840c748-3064-49b0-955a-cb674026f538 CLINVAR:42912 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ef66e50-03a5-4bd5-8676-61707b33237b CLINVAR:42912 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa6bf81a-8b05-4fbd-b2c8-ca4686711346 CLINVAR:181202 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aac993dc-72f1-48fa-87f1-5d1e7a520c07 CLINVAR:181202 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8711aca8-4cf1-40c9-9b80-37cae493b178 CLINVAR:164351 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16265880-e312-466e-98d7-91f0c65b0128 CLINVAR:164351 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac5eec2-0714-49ca-9213-46b406614962 CLINVAR:43110 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e2b184a-531d-4989-9782-1423f4d058d7 CLINVAR:43110 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75afb6d2-0c6d-4521-be8b-e2df0dd3fc39 CLINVAR:181324 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 500c3c47-054b-461d-bfa5-8a5ba3c50164 CLINVAR:181324 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3e48c2-391a-4cf8-998b-79bf45965cd5 CLINVAR:264607 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ecd21ad-3b9d-4c36-b891-72f951482c10 CLINVAR:264607 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9102514-068d-4003-848c-07d8ae38f90e CLINVAR:43196 biolink:associated_with_increased_likelihood_of MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6165fdac-ddfe-49a7-b45d-56686bde7e98 CLINVAR:43196 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2871ec47-4dc3-4317-9fb6-ecd434977516 CAID:CA1563057 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e3cdfbd-f185-4323-bf6d-b445975275f4 CAID:CA1563057 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 782e15d8-fd01-45fe-b285-1f3f300165f7 CLINVAR:1699993 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6c41119-44b0-4212-a88d-8a6f64d4cfa2 CLINVAR:1699993 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6917b310-12f3-4d1c-9e80-2443edeffd6e CLINVAR:1699994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6158b04a-8ffd-47c0-9b2c-bf6ac4895ae0 CLINVAR:1699994 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af0dd244-87ae-4b59-859e-da2c0c4a017d CLINVAR:1699995 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f4d5be7-b7e4-48ca-a8b5-6fb8b031b2f7 CLINVAR:1699995 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b7e5cb-0cb8-43cf-b8a5-44daeed4dda5 CLINVAR:1699996 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16699b83-c749-46c8-9e0f-d59f0a450ab3 CLINVAR:1699996 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a4b7e1-cb1a-4310-9a63-5425293e8fb9 CLINVAR:1699997 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c29bddc4-ec50-4970-8524-bdfe4cb4fcb9 CLINVAR:1699997 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73bfe8bb-c9c3-45c5-9c21-7ca928597326 CLINVAR:1699998 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0de79c5a-d151-443b-9961-e34aaedc0a19 CLINVAR:1699998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e93b7bf0-850d-49ff-a12b-afd5f343178c CAID:CA386967815 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 878aadb7-12b6-4c97-b7b7-d3fa73e87841 CAID:CA386967815 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9163d09-d7f7-4a76-92ba-9bf92b7745d5 CAID:CA386958691 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3412312-3438-42be-a9ce-7fc455de374a CAID:CA386958691 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f67d98be-ba07-4305-9caf-acb19c2a2ed5 CLINVAR:1804171 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a461ff0-365c-4ff1-811e-a108c1a51ff3 CLINVAR:1804171 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709f54d1-6967-4f7f-bbe5-72eb5d2d07b1 CLINVAR:203585 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba63d195-8820-4dee-9618-764597227d00 CLINVAR:203585 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8162f01f-d2eb-455c-863c-e0b3cb31138c CLINVAR:371449 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9a6a1a5-3233-49f7-97a0-803aed96d1ca CLINVAR:371449 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea63d437-9c87-474c-a91e-f74bffc293b9 CAID:CA397722455 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87c019d9-d1af-48ba-a4e6-e5eee85b80ec CAID:CA397722455 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 923a159c-451b-4e6f-87bb-0a8cd1bb0547 CLINVAR:21025 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72dfe861-9356-4247-b2e6-c2b8fec971ae CLINVAR:21025 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9664298-20a2-4be0-8340-fcb0df0bcbc3 CLINVAR:92275 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 476e7c6c-29ef-421c-bb40-16e05ba63b3e CLINVAR:92275 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f53dbcb3-dd03-4193-af70-a9a7a1d6f841 CLINVAR:440555 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 210c0ed1-2c83-4af3-8b7e-731026770f26 CLINVAR:440555 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2c19043-f3dd-42dd-896b-e939e52e2326 CLINVAR:251105 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b61ad95b-ac70-48b0-8cbf-780e2d2b854f CLINVAR:251105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc7cf0bf-f4d7-4d89-98bf-f294723afc04 CLINVAR:251699 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcb58592-fe3b-447d-aedd-f83d9008f1a1 CLINVAR:251699 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dd3d7f9-344a-43e4-946c-2f5dafc223b2 CLINVAR:3695 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d8d64fa-54d9-459b-aa2e-6f1017a6f6f7 CLINVAR:3695 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34645b97-e3c4-41ba-ac6a-e342893aa4ce CLINVAR:36454 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0956472a-4ea9-45f0-a300-1cedc770c796 CLINVAR:36454 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6edc5f5-3bf0-4c7b-ac09-1a6b3656018c CLINVAR:162499 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6df702b-7ff9-4c0b-a230-479242e33b9f CLINVAR:162499 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c3ea7a-68e8-4422-9acb-d4f2d3cff2af CLINVAR:226363 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64bc73cf-45e0-4c14-8572-016df2217b5c CLINVAR:226363 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5af5d82-a453-4bc8-8100-544d319386f5 CLINVAR:251938 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e43817f-4d21-49b2-825d-4409dcb25bc1 CLINVAR:251938 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54f4dd6-7d5d-4015-903f-4c8f4c8210b9 CLINVAR:251085 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0d2228e-6341-4122-93f5-18191da166be CLINVAR:251085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63628469-010d-4729-97bf-14a2a0e02dcb CLINVAR:251436 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 533b6618-b983-4271-98bd-a472a00a6642 CLINVAR:251436 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02195254-2626-4cfa-88ef-fb70b99112c8 CLINVAR:375806 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dbe6aa91-9f25-4a53-8fac-a099e6ff7910 CLINVAR:375806 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bef936d2-c66c-4f3f-acf2-56d4da031a8f CLINVAR:373769 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce25c65a-d108-405e-b4e3-81419cf9e95f CLINVAR:373769 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f14c7a8-8bf0-4c9f-8537-ba861dfb62f4 CLINVAR:252302 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1df7a54b-8ca2-428e-ba09-c225ca79e72f CLINVAR:252302 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e0d5ae-29c7-48ee-84a4-72e9747b76ea CLINVAR:250954 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3f35591-14e6-4b20-a706-7033ea83be27 CLINVAR:250954 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac82d961-bccb-4136-aad4-33227ea5e09c CLINVAR:250980 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49c593a6-72fa-4806-a376-48b4b8782f6e CLINVAR:250980 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c343b74e-85ba-4c83-a43a-abc640ed4fd3 CLINVAR:250981 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0732202b-d4a9-43fb-b64c-77d8d1f70117 CLINVAR:250981 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5fd854e-8937-4100-92c2-f919013f9886 CLINVAR:251926 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 199cc75f-9779-4366-9756-56acfcdbd501 CLINVAR:251926 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63f049d6-81f9-4753-bdad-04ba5add18ae CLINVAR:252330 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7012639e-6bbc-4cca-9e02-4af175981b7d CLINVAR:252330 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65244437-e050-4929-b430-fd05cbff93eb CLINVAR:1703212 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d79a9425-d5b9-4ff4-968b-8f78dfabec32 CLINVAR:1703212 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa205a9e-c3c6-493d-81fa-204096006ebd CLINVAR:1703218 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac396ddd-7a31-4a33-9924-f0ff6d92a889 CLINVAR:1703218 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1cd922-0b88-46d7-a2b7-82affff3393a CLINVAR:1703219 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da8e6824-5ec7-4968-9889-637b428e2865 CLINVAR:1703219 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4757ebd-e7dc-4273-80b3-dba96c3e07f0 CLINVAR:1703220 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 373af0fd-f908-4233-a973-36e6386fc567 CLINVAR:1703220 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ac5278d-f30e-48a6-9c9e-1f315458198f CLINVAR:1703221 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db24a1c6-560e-444f-a199-a760f20d787a CLINVAR:1703221 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880a40ea-fdbf-4869-89bd-763ee5d0432c CLINVAR:1703223 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6808c67-7ab4-4f44-8e81-d68b81ff75bf CLINVAR:1703223 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e6084a5-59b1-4880-adb5-24b033240694 CLINVAR:1703224 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96009151-bb4e-4b2a-bb6f-05c022d71bb9 CLINVAR:1703224 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88bdafca-4505-4248-86a9-4bd6392a5081 CLINVAR:1703225 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d564d71a-0083-48fa-bef8-b38f6e0b9999 CLINVAR:1703225 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c97c810d-2caf-4189-866e-edf5b38b412a CLINVAR:1698724 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 016d74b5-32e4-46bf-871e-278ee8e08019 CLINVAR:1698724 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b24bcdf-7c3e-4dca-94fc-2beddd67a911 CLINVAR:1703213 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c131eb9-65aa-411c-a15f-562220c34c93 CLINVAR:1703213 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1186895e-d7c9-48f7-abb3-21b61a99b593 CLINVAR:1703214 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7fe45a6-61fa-4632-bdb8-380e6bb0e0d3 CLINVAR:1703214 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c6613ea-5da2-46df-b911-3a1c9fab3e70 CLINVAR:1703215 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d33a79c1-d8b7-4fae-b36d-16ace43e1b07 CLINVAR:1703215 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c435fc0-fa52-4204-b70f-c7bf1b5820f7 CLINVAR:1703216 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3ba9cd7-03f6-41fe-a5eb-084009f36294 CLINVAR:1703216 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 780bb8d8-67e6-4617-8b84-01bfab93a506 CLINVAR:1703217 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6644394-1a30-48a2-826a-0441f4e7ebc7 CLINVAR:1703217 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9c905b-9836-47c8-bb20-c26427edcdfa CLINVAR:9712 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ee4e4f3-dd4f-4742-a758-288a599af2f2 CLINVAR:9712 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4160c4c8-4df1-47bf-bfb7-cb92db5822f4 CLINVAR:986458 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04996d81-5dcc-455a-a5bf-3742554bb8c7 CLINVAR:986458 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f74bbd-368b-4f0a-9ca9-b0f25d6244e9 CLINVAR:693516 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b0fe079-46de-42a2-a723-73a4bddaf156 CLINVAR:693516 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab682142-72a3-44dc-afab-48e718895b90 CLINVAR:9715 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a00e1b52-86ac-4095-b5b8-edd3b3de7dc3 CLINVAR:9715 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e9161f8-108b-4254-8053-9f00d4e7914c CLINVAR:65518 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12ddb1b2-14c5-4dbc-b654-1dba0a9e578e CLINVAR:65518 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 184a3ea3-7f31-46f1-8e74-8959eea3f22f CLINVAR:986454 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4eee6e73-173b-4fd5-9c1f-afb433cbee26 CLINVAR:986454 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bede26a-eee8-4c02-87d1-8098470bd3a8 CLINVAR:11505 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fe30a51-bf8a-45e6-8cb8-8037a0f6cdbc CLINVAR:11505 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 226b46ec-70c4-42b3-894d-a4e004e27ce0 CLINVAR:929426 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9460a35a-c9af-4811-b7d2-d5f93e61d3f5 CLINVAR:929426 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef6961f-41b4-40c8-a348-43af703eb707 CLINVAR:489299 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff099e6b-529d-48a8-86ff-ea8eee7b90b0 CLINVAR:489299 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a01fd168-624a-4aa9-800e-1ac85fb09805 CLINVAR:643438 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 818c92ab-d6cc-47e0-a4d5-26aa30adef7b CLINVAR:643438 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c4d7dc7-9fe2-4929-9b88-77e98d945f4c CLINVAR:487576 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f566baea-702c-445e-b032-6390126c8bb5 CLINVAR:487576 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 284c9ef2-e8d7-4bdf-b232-16c7a99ca5a3 CLINVAR:143749 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1d0615a-30bc-4d3c-b83b-fb4123b65138 CLINVAR:143749 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d16ea67e-4e90-4e50-911d-60e33638365d CLINVAR:156615 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0ce26b7-87b1-4a5d-8cb7-508914dc3a9c CLINVAR:156615 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdcd7a83-710c-4c70-a191-3471cefaf66e CLINVAR:143754 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ac9a348-8f77-4c44-b89e-fd090a54ce56 CLINVAR:143754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c151419e-dd7b-4bd6-9694-dbad011c6a01 CLINVAR:133026 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9056e3e1-7bef-46ed-ad5f-a615ee07b0ab CLINVAR:133026 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8280b5d1-7281-4b3c-b668-224f12da561f CLINVAR:650932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddd813e9-b335-4ecc-b791-54cf0120ad8f CLINVAR:650932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77500ae3-671f-4872-9a79-73754e9d66ec CLINVAR:65996 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef022460-55ac-4e7b-851e-687893356bf9 CLINVAR:65996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8766533a-0a2e-475a-b39d-ad0498a623ab CLINVAR:803557 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cac4921-c0c9-4696-8dce-a515ffb387be CLINVAR:803557 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e78415a7-3bad-4bda-8feb-f25120fb2686 CLINVAR:133027 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cee7c44-157f-4f51-8da2-1d0ea6d31152 CLINVAR:133027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e000a285-c921-4024-9e25-8e2cde78450d CLINVAR:590582 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02daa0e0-a233-4a98-abe9-98c76523c155 CLINVAR:590582 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd55b0d7-2304-4884-afdc-8ab332620457 CLINVAR:803555 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5eb9babc-6d7d-49ee-b6e4-29e0a4cdb4f9 CLINVAR:803555 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff15f00b-85bf-4736-8db9-a431ff99c8f9 CLINVAR:133203 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56d785f1-197a-4056-8d48-6973967db5f1 CLINVAR:133203 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84b36069-8b66-48c7-bfcc-ff689b5c3b83 CLINVAR:803556 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9149e131-7bec-49f3-b6d7-7de3e9129f8e CLINVAR:803556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32998816-bcef-45ba-b271-d7272978fa7d CLINVAR:938242 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9aa8802-644b-4349-84be-235fe544ed34 CLINVAR:938242 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e42750b-f8ce-43bc-94b8-588ed4f7bc4c CLINVAR:4021 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1ade678-f300-4200-8640-b4d93391264b CLINVAR:4021 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3009bd69-92d0-432c-bdc8-b05373a11466 CLINVAR:456391 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0cda91e-e06d-403b-a20c-f1556a769483 CLINVAR:456391 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a11dd0-af11-458f-a057-667a5a40e8a2 CLINVAR:286469 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b938c8e8-3d52-40d8-981b-91dd42a4fc11 CLINVAR:286469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb6dd79-d98b-4c45-b78c-a7c5e3a0fb43 CLINVAR:371226 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d2ccf3f-1107-41eb-9592-979b1f7d2c73 CLINVAR:371226 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 505ef123-0823-49d0-8ed7-90020ec01438 CAID:CA658795267 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3c39eb8-32e0-4f22-b4be-9ef68f481ca1 CAID:CA658795267 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211558ec-52d7-4dd0-9dbc-8bf34f260491 CLINVAR:188786 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ac6ea04-3aea-42de-9dd6-22cc0594c38e CLINVAR:188786 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab061dc3-6a07-408b-94be-6f1a4b913dba CLINVAR:935199 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a44e1a9a-f398-4fda-b975-e912bbe8c33d CLINVAR:935199 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b3aa26c-4f34-41ef-bd40-b5fe28944813 CLINVAR:392862 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3aeff147-344c-45b1-b880-470e1307f80b CLINVAR:392862 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b3fea4-926d-4173-8428-af2a934eb279 CLINVAR:432217 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e22e2a6f-90c1-47cc-a4c1-d1723083cf1c CLINVAR:432217 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0111939-0524-4310-83e6-d2004bd2eddc CLINVAR:552527 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efc64f35-e9a1-4660-ab71-d3d508f3dd58 CLINVAR:552527 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b16b07ff-aeba-4651-b7c0-7442909c2876 CLINVAR:843677 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 639d7edf-18fd-440b-ae63-74af24bde26d CLINVAR:843677 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e39c2a2b-4416-4df1-9853-5eaf91490329 CLINVAR:554339 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ce07d36-484b-4b29-a93c-f45a30fb3685 CLINVAR:554339 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0df1204f-5c07-4f15-a951-9348f4ff2e4e CLINVAR:856881 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c6b32ee-2df6-41a2-8021-89c0e2039e75 CLINVAR:856881 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f302e08-f02a-428a-9a63-cf248b9f1b17 CLINVAR:1073045 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49a6cde5-403a-459b-b63d-7913144da878 CLINVAR:1073045 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e93d6334-1987-4cc4-9241-32cb38145fc5 CLINVAR:618506 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4fe0bb4-aa50-4346-9765-8fdd898a3730 CLINVAR:618506 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35ff9b03-c525-4b33-8896-1a8de931b1ea CLINVAR:846935 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21867f6e-4d17-4fd4-ae28-b2420c115279 CLINVAR:846935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3281c5ed-761c-4ec6-8d1d-70107371a447 CLINVAR:1626 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c53252a-6e07-46f3-9b99-77ebfd28608c CLINVAR:1626 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 487b999a-f2b8-4222-8211-4c91d31eb461 CLINVAR:422995 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 984396db-8dd4-4c73-a45a-7459757f2642 CLINVAR:422995 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a82734f-8bfc-4ae7-a9e6-7d067253d5f6 CLINVAR:932787 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f04c41c-779e-4479-85e2-6ba08318a033 CLINVAR:932787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56a6be1c-ec88-4862-a17e-0880fe149786 CLINVAR:370686 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df87a219-6d35-4dcb-b308-66c2d94cf755 CLINVAR:370686 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca9cd6e2-219e-4e38-895b-c02164b66ac9 CLINVAR:203580 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11e68639-1d74-4923-94ba-81309d263b50 CLINVAR:203580 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63290508-b28a-4d34-80c7-bc40b400cd38 CAID:CA397724300 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d59a20f-d7b3-42bf-8073-07dd586bae0c CAID:CA397724300 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a009ecb7-ebc4-4274-9fdf-a4d674aab0c7 CLINVAR:166638 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36d16c33-2808-43f7-82f9-ca79dd14ad10 CLINVAR:166638 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 513db2a5-ce83-4a52-9352-059a706fea93 CLINVAR:557575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d35d8249-9f2f-4d27-8485-77529a19feac CLINVAR:557575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe49db40-9b64-4413-949d-da9335c04305 CLINVAR:370482 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8f413b7-2c3d-411b-8e29-99a76136cf74 CLINVAR:370482 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 672ed086-8fde-4c51-a474-2c6b75711d84 CLINVAR:567061 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6841b834-6d0a-45fd-b1e1-72f42f966b0e CLINVAR:567061 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b86c11be-5a2b-46f0-bcd9-90c79b67e70f CLINVAR:203593 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7f4bca4-7d5c-43ca-bc39-efac49830fca CLINVAR:203593 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a72f4d2b-5c8c-4828-8077-7f3ec4abf2e0 CLINVAR:581398 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1ef1157-c532-4d96-bdba-01e4adc8b554 CLINVAR:581398 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a4fba73-e904-4fe3-becf-a237129eb1bd CLINVAR:932848 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22a60ff8-0a3b-4c14-95d0-9023b1654855 CLINVAR:932848 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9604ef2a-957d-4504-b222-667ccf01c1e3 CAID:CA8337657 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba37e077-b3f8-4729-bac3-7bbad30e9922 CAID:CA8337657 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 272cbc19-351b-4ee7-b1f2-956ae81f5982 CAID:CA397722888 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c066da0-1a8d-49ac-8ff4-966efd919332 CAID:CA397722888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2953f805-1d51-4542-8266-92fd5d5003d6 CAID:CA397726273 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e17c084-2086-4eaa-b937-3092f049889b CAID:CA397726273 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d76ee2-c9ad-4d3c-803a-d4fead0947ad CLINVAR:193541 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81d8fe09-a357-4ee2-bc6f-64a00417ce11 CLINVAR:193541 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23df68d4-7c8a-4523-8cdf-99482793a485 CLINVAR:203570 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 843b53b2-4278-4a89-a041-a756f1c6c091 CLINVAR:203570 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94824e00-7657-43e2-92d3-161d5824e55e CLINVAR:254700 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eaebf1cc-196a-4263-8e30-b51327735434 CLINVAR:254700 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c0d7240-7ed5-400c-8c5f-3938bc62028a CLINVAR:553583 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffe726ba-86e3-42c7-b957-b5d41f8924ce CLINVAR:553583 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c69eb1-5ec2-4aa5-a052-24ddc2d40207 CLINVAR:216422 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 696b6457-2e94-4559-93d7-0d54d3252378 CLINVAR:216422 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1da69d76-b2e5-453d-a8cb-2b631647e36b CLINVAR:279878 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e627dd0c-486d-468c-aba2-36e69e07e0e5 CLINVAR:279878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81f36a0-de30-4dad-8eef-65437c8c50fa CLINVAR:420491 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b10d8bd-d26b-4bf4-ac8a-4866182d2222 CLINVAR:420491 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713dde05-80e4-4a3a-a011-fb7bf0c36fa5 CAID:CA346124255 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61f7aaa1-bc9e-40ec-9f82-3209abfe85ee CAID:CA346124255 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23807b40-be37-4507-9aa5-e2e1abc6500d CLINVAR:370279 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e44ee314-d3bc-4a6d-9d43-5e0312cb7813 CLINVAR:370279 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85742f79-14e4-475a-983a-8bb5cd0be92d CLINVAR:412802 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de4c3031-8479-4d7b-8df4-b9053ceb8813 CLINVAR:412802 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3bd495e-021f-4fd3-aeac-7b0bc2667d1d CLINVAR:127676 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36e16c4f-3bab-4a93-b5a6-06b7ca694979 CLINVAR:127676 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1dbee26-7c86-475a-8402-bd63caed988b CLINVAR:127682 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ea4ea38-0885-49cf-ad33-ae213caad943 CLINVAR:127682 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ccb17ac-125b-4090-91bd-1b1f0ec0f584 CLINVAR:234695 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7221708-75e8-4606-a3f4-08ce6e636e40 CLINVAR:234695 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70fad3ed-d2b3-42ed-a5c0-601c1ba175dc CLINVAR:468719 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a38c9c1-f204-4ec7-8972-123cf1208b24 CLINVAR:468719 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70e89383-c16c-4ba4-8af6-bbb26ac69684 CLINVAR:141717 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a938790d-7394-4fa6-b91b-a6e07dac7da7 CLINVAR:141717 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b82c73e2-cf27-4331-b867-214182edbb58 CLINVAR:404144 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9358450-9b92-4b03-ada7-c793fc0777d6 CLINVAR:404144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb4ba395-1d47-42e4-b777-6cc9483b440c CLINVAR:140783 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3491b93a-7bc1-44e1-bcab-835f57274ad1 CLINVAR:140783 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ef84e2-caf7-43e8-a001-7246b4c13d7d CLINVAR:825730 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b9b6a8d-936b-4f8d-96cc-d88b41f6c1f3 CLINVAR:825730 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d4e764a-c8a8-40e5-98c1-ee5c27e7905b CLINVAR:428199 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1beade12-6d14-46f2-b8a3-0839e4401f41 CLINVAR:428199 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57282518-4ef0-4997-9900-23fa3d9ce920 CLINVAR:644390 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15cbd3f2-203c-4155-b036-17875d598435 CLINVAR:644390 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e66b654a-9e96-4367-b05d-17e9bb121985 CLINVAR:224542 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51ba10e8-f038-4fb5-9e7c-f53eb76fab8d CLINVAR:224542 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad8c3cae-fa9c-4152-b50a-9959c1951112 CLINVAR:619908 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 119aa244-de58-49fb-bb15-a454f5276deb CLINVAR:619908 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92457750-f6f6-418b-a78a-1c6d0b844922 CLINVAR:484605 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0302290f-b2df-41ee-bb6f-618b37f13b72 CLINVAR:484605 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39d55df5-6a23-4ac8-8f97-9e3d5534de6f CLINVAR:492332 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d8ff9ff-bb75-4a8a-862f-e266722d9683 CLINVAR:492332 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c56bceb-6225-4096-ac9a-9151e37ef37a CLINVAR:316208 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73bc7d64-9173-4947-91ff-c889d5f74126 CLINVAR:316208 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e89b1be-3fe0-4d55-80a6-dfd062d9fbbf CLINVAR:589915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0761bc4-19dd-4c34-b5f0-0213fce313eb CLINVAR:589915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3d96cc-29c2-41c3-9508-3d078802599b CLINVAR:598112 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56af8d23-f695-4cb8-91e1-8db54809cc5e CLINVAR:598112 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d84d7ec4-e969-41f4-b6c3-6626c70c02e8 CLINVAR:625953 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59e16cc8-6d75-4879-b3ee-ab06fcef4eb8 CLINVAR:625953 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5972e516-dc8f-4e42-a7f6-acd7847cee8d CLINVAR:570204 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f68c7b6-a99d-4977-9019-775d8326f8c7 CLINVAR:570204 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8270515-8ec7-4f37-9719-6032b874289b CLINVAR:654184 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7699eb2b-3ae0-414e-9162-edd25cb07023 CLINVAR:654184 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baffe26f-4a1e-4d75-8411-93ad2243b1fe CLINVAR:55918 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bb0f6bd-aafc-4eb6-a89c-421589748d09 CLINVAR:55918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 047e1dd4-edfc-4bd9-b836-04153be6a106 CLINVAR:205617 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa901d73-ade4-431e-bd90-93a83a8e9b60 CLINVAR:205617 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9904ab54-1de7-4269-8b77-530d8b59a944 CLINVAR:55919 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4745325c-2cdd-46e1-88dc-7a137717aff4 CLINVAR:55919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79368db3-85d6-4d90-a3dc-1449ecf63741 CLINVAR:7302 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb084c7a-b279-4e4e-b85c-3b9ad1cf8f33 CLINVAR:7302 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e314f39-8813-4e83-96de-e9b29cc6f2ce CLINVAR:55921 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bade2815-04b8-4832-abb2-ed1ae369ac24 CLINVAR:55921 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60218ae4-e50a-4b76-8b2f-6be606c15633 CLINVAR:21299 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b03f984-0669-4774-b236-deed1ddc7bd1 CLINVAR:21299 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e8c6aad-2ff3-4146-892c-cc6a8ba328b3 CLINVAR:572733 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffa58b4b-ac37-4e73-98f6-bf5d256cf5c8 CLINVAR:572733 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5360627-1c2d-4c83-ad60-4acd62cb0c24 CLINVAR:21065 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a947dd35-5648-444a-8716-15c8a47a8f4f CLINVAR:21065 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a9db7ce-64f7-497d-95d5-547e26ad7030 CLINVAR:205596 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff451c1f-0081-4261-81cc-0187228f2b85 CLINVAR:205596 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c63dab1-206d-4ede-b058-9a97cc2e25e8 CLINVAR:544252 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77860910-8b02-4647-bd33-849bba812fd0 CLINVAR:544252 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb2504ee-ce82-4d07-8df3-926f7c0cd788 CLINVAR:205595 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcebe768-bab7-4a4b-a92b-e39fa8e08bd1 CLINVAR:205595 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a696280-c4d7-4dd6-92be-a72fbda5addb CLINVAR:205594 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5d21d07-8606-4961-ab44-c844c5146e61 CLINVAR:205594 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc00e6ce-f09c-4d68-b8a9-f74160f1b2f0 CLINVAR:445930 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 262246f0-49c6-4b14-b9a2-4c9cabc6b772 CLINVAR:445930 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68c62b15-5b02-4815-8938-aaec3bf5a863 CLINVAR:205569 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d77ca936-5d0a-4528-acba-8fb2630bae9b CLINVAR:205569 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2038939f-8d68-4275-850d-98336eedcf0b CLINVAR:205592 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28773e37-a9af-4dce-aecf-951507741ada CLINVAR:205592 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f1e984-33ff-4fae-83b5-917bfe70c4c5 CLINVAR:577478 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc0cd6cb-cc49-4836-8e1b-1cb3ff682943 CLINVAR:577478 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 589322d5-209f-4995-ae8c-3649ee55d70e CLINVAR:544261 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb18d945-dd88-4f34-876e-fae109639c10 CLINVAR:544261 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e52f6a-90f9-4433-864e-4b63958f4e98 CLINVAR:205590 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5fa92af0-5120-4fbd-addc-c76d5a88e1bd CLINVAR:205590 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476da65e-e644-4f26-bf5e-52931c0dd618 CLINVAR:205584 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb7abbcb-5cc9-4636-a5db-389ab0524d74 CLINVAR:205584 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f24694a1-7460-4ba0-bdf0-364e7a91f4dc CLINVAR:431959 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb82281c-cb95-4cff-9aba-b8a18373d939 CLINVAR:431959 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b73c79-3f0e-4e2a-916f-fb6a54304c3e CLINVAR:495685 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 891d2672-4cd6-4aa7-8696-adf1fd6ffa8e CLINVAR:495685 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5502a3ab-935e-44e5-9917-5de31cf6d1b5 CLINVAR:205581 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1682e30-4d20-4f57-9d7c-c10457cf33a8 CLINVAR:205581 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace86022-9078-4a74-a2e9-407d5f9afa3a CLINVAR:513151 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36166637-cb01-4706-bb98-e3cc3d3e4462 CLINVAR:513151 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23edc9f1-7b6a-4612-9801-fa4aef2da711 CLINVAR:225369 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 359b8624-0bb6-43c4-92c1-52fbe67c03a9 CLINVAR:225369 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2573102d-609b-4042-acd6-9ec961ef162e CLINVAR:664123 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8877a18-c32f-432f-aca1-2c228296e540 CLINVAR:664123 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e84d6ea0-b184-439f-abb5-7a15230ed733 CLINVAR:205580 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f270b41-46b9-47bf-bcba-3d70b3015996 CLINVAR:205580 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a038534a-c5aa-4482-ad93-a60a81679fa0 CLINVAR:566624 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4a08104-2fdd-41d3-9a30-50177af2d412 CLINVAR:566624 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 985e3091-23f1-4718-b0d3-a146a058fbfc CLINVAR:8302 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 995b0701-2302-4b6e-a5db-c650aff0a3a1 CLINVAR:8302 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f0a5358-d420-4b50-9bce-7234ec9ae470 CLINVAR:21066 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d118c8c0-da95-4127-9504-925ff508e3cb CLINVAR:21066 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5984fa24-026a-405e-8da8-8f7eb287a073 CLINVAR:666596 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26b4fc6e-f3a9-4569-a623-5c0cf0fb932e CLINVAR:666596 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea3790b7-b5e0-4d1a-8dfe-36775c91997d CLINVAR:666588 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 747a2113-ed80-41f4-8a73-6c6de4e603f7 CLINVAR:666588 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7bc78b1-2d4a-4eca-90e9-e9619b8faf56 CLINVAR:392671 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31d868b8-b53e-499c-87f8-23dcce41156a CLINVAR:392671 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33541505-c50b-4164-be0d-b23f3ab38714 CLINVAR:533702 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b09bc6b-5fdf-44f1-9e0f-6f0b01741eb5 CLINVAR:533702 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f02e9c86-9f53-45e1-a445-4cf43cbc2ff8 CLINVAR:432463 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c01fc9d-5cdc-4eb7-b5ed-17c6f1592bc7 CLINVAR:432463 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be96c2c6-3d73-4dcf-abac-ec1731a05f3b CLINVAR:465148 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a3b1ba9-7c50-4f28-9f93-26bd244b7cd3 CLINVAR:465148 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 075eab9b-49ac-43df-a8a9-1984b349a7df CLINVAR:643295 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59ab75b4-d0cd-4599-be56-0493fe44179e CLINVAR:643295 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33340ccc-a71b-46aa-bb3c-df22c1afa8d2 CLINVAR:650071 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3eb58fdf-a599-4dbc-ad90-574d2f8be016 CLINVAR:650071 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64137ed5-d608-4ed2-8d2c-61856011825f CLINVAR:572616 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfb28bc4-d607-4ccd-8a89-8c8bb9cc9900 CLINVAR:572616 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d8f3c9e-23ef-407a-b14c-75595494933f CLINVAR:410221 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29213541-a068-4e2c-950a-6c951cbc10fd CLINVAR:410221 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b8c00f3-c17b-4b30-b7b4-c3bb063e3f8e CLINVAR:658337 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efe2019d-e608-4386-9826-a3a62bf7fb6f CLINVAR:658337 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e2069f4-c7ed-4b0e-a7b9-0182149a56c4 CLINVAR:21448 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc6a1a79-c359-47b6-98a5-4e685f8fdf0a CLINVAR:21448 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d116e1-508b-4a59-902a-4cd52c560f96 CLINVAR:652028 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b350a0ee-6005-41a7-9cf7-11e4dbd4333a CLINVAR:652028 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ceafde-97d8-4f6d-8818-c2f25085a92a CLINVAR:449366 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc814644-8187-4287-9466-fe5a64bb5dd6 CLINVAR:449366 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5944e54-d4ae-435e-9a11-b65188c352bd CLINVAR:635461 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb36efb3-f4c4-4b85-bfea-ea08952e1c2f CLINVAR:635461 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8a62cab-0a91-4bbb-ac85-4c0c828a6e79 CLINVAR:452407 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e375b654-516a-4424-bd69-428216df1a32 CLINVAR:452407 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f12f460e-2816-4309-ae62-414166b9d0a6 CLINVAR:633583 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f494246-f216-4ce1-83f8-c5d09daa60d4 CLINVAR:633583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a8b50c1-153f-497b-81cd-bd3db51d9928 CLINVAR:586615 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c6a456f-2a8f-432c-8c2a-ccb2b9a3c3b3 CLINVAR:586615 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2529ae8d-bf60-43d0-9e7a-a2f2628b3c45 CLINVAR:21017 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27d1b6ac-f84d-4d81-9a75-fe26770d8aa6 CLINVAR:21017 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b912aba-98cc-4cf4-b8af-57fc00998c68 CLINVAR:92276 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 142e9dbd-8a38-4158-8589-6b5053fbff38 CLINVAR:92276 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a54a796-7277-42e2-b31b-179f4523f533 CLINVAR:986472 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1f9b510-befc-4c7d-8ac5-1b0d573a5f8a CLINVAR:986472 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa7cd42d-401c-46ac-8ada-35ae8cdfe217 CLINVAR:9632 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9361779a-503d-47f6-acfa-37f7d636a638 CLINVAR:9632 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91263a10-7cd2-4b17-925f-44942a1484ad CLINVAR:9606 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1efb555e-bf52-40ec-8d5c-ed8359f3406e CLINVAR:9606 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7c61525-1d6c-4282-b3c4-f25073f788f8 CLINVAR:689875 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c89514c-0d3a-4e41-883b-3599369bd028 CLINVAR:689875 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ba827db-e42b-493b-b1b0-f87bb727e29a CLINVAR:9556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea722102-30d5-4cfe-b3ad-b9013d80a60d CLINVAR:9556 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffb550e5-1295-4190-81a2-cc5dd544e2ec CLINVAR:223247 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92c8bec2-5290-4b81-ad43-1dfe1fbcd68a CLINVAR:223247 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 643c79dc-4d19-4ba1-b286-034e8729ad2e CLINVAR:9707 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 890124d2-aeb9-4e93-ace3-af6b6b916023 CLINVAR:9707 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c73d3e-215a-4050-9fc3-617ca7bdcd5b CLINVAR:9591 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd8d6d77-1d26-44af-9c46-1a92ac5611fb CLINVAR:9591 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29fc0d9d-b535-4adf-b807-0737f5615c08 CLINVAR:102551 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 118acbf3-ff83-45e4-b9b6-b8934dd2896d CLINVAR:102551 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132da91e-8875-48c2-95a8-651b24c30013 CLINVAR:102652 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88e018c5-0f4d-4be8-80c5-76481daebc19 CLINVAR:102652 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8e64694-2fba-4585-a9ea-e73f84b5e92b CLINVAR:102663 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c563ff74-a834-4b4c-b5e9-6e860041dadb CLINVAR:102663 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c23520-db89-490c-ab22-cf6626f739b0 CAID:CA16020977 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab2e103d-6f08-4cc7-9bcc-a3e95d28f733 CAID:CA16020977 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d90ebc4b-d06c-4f7a-9454-5da47c9fd6e8 CLINVAR:102718 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8e81f9b-f4be-4366-8f0b-f5ce9f1913eb CLINVAR:102718 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60001013-fecd-4419-a106-dc3acf1035f6 CLINVAR:102664 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfe5fc90-40f8-4b4c-801c-9bb6ae843585 CLINVAR:102664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5448867-c6fb-4984-9957-95c48e57612f CAID:CA386493311 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72c3e8ef-4a75-4d1f-b683-d3cf0eb319c2 CAID:CA386493311 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c449452-3b49-4520-935b-945c70dae011 CLINVAR:657348 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd04864d-1470-4327-88cd-7a4032184ce7 CLINVAR:657348 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb05151-210d-4261-8e7b-a5ad48e2e51d CLINVAR:431990 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bafd6d2-2469-43e5-b2c4-74b8e53619a2 CLINVAR:431990 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efed54d9-50c6-4522-8214-2f27b3d40664 CLINVAR:92483 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61294706-3949-4e6a-9ff1-ac6ec71291c4 CLINVAR:92483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b37e4be-1f56-43a0-91bf-fb6c9924f82a CLINVAR:498117 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f90960a2-ebca-4595-ad35-7d21fbdece28 CLINVAR:498117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ed0a923-e585-452e-a30c-9c3b9394106e CLINVAR:370130 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 951b501a-e8d9-4e7f-a3b3-d8de2407bd6b CLINVAR:370130 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3faeb80c-439c-4623-bc03-d7afd5bba171 CLINVAR:933090 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f22a05e7-0ea7-4bb9-9173-0daff1b933f2 CLINVAR:933090 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e3746c1-96d5-467a-88c7-8352c38743bd CLINVAR:690461 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0794e691-19cb-447f-aa83-0f89e773fb46 CLINVAR:690461 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e556f5-8e1f-4603-bfc1-16f55846ae36 CLINVAR:1722520 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 579e29f5-4a49-4295-beb1-743206c721ea CLINVAR:1722520 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467d3b65-a911-4285-b420-40295e1b8c49 CLINVAR:479636 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8034d469-532d-4758-990a-3282a62e380b CLINVAR:479636 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 814ab659-ee3c-446e-8286-b29eb56b0259 CLINVAR:429125 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea1a7245-4003-4900-9bbc-9fcb862ea378 CLINVAR:429125 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab51d825-546e-4e28-85bb-06fa26b1a575 CLINVAR:824918 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4a7c736-77c2-40ec-b877-0a67a47cd20a CLINVAR:824918 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa12303d-d0b6-41bd-9ce3-e1cc4cbd4902 CLINVAR:1722521 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb462f08-5b23-423e-a4f8-d71ded7737f7 CLINVAR:1722521 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7d28e0-4dd4-48fd-953e-42ee39456836 CLINVAR:1722522 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49b6447e-ae7f-416c-b8e5-6fac7e6c0d47 CLINVAR:1722522 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34cc9b79-baaa-4b57-90d6-a7b45faff9ba CLINVAR:825925 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf6f9b84-8e7a-4e42-8825-be4fad12d615 CLINVAR:825925 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0955b08c-145e-4df0-b489-3d5461e7e63c CLINVAR:653922 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7a91bdf-28a6-4125-b26c-ecc433fad041 CLINVAR:653922 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfd8bb25-f866-43b9-b35c-2fc6a5514d8b CLINVAR:933126 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbd6438f-07ab-4102-a13c-1b3551435001 CLINVAR:933126 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374c14db-cc02-46f7-a969-773ab4384981 CLINVAR:825934 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29bf2f3d-6cea-4dd3-9de8-ed107fb66e42 CLINVAR:825934 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30baed08-96f3-4611-a60d-b8194f5a74b1 CLINVAR:1723160 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b9f845f-19b9-4038-94e7-7ba7e12c629e CLINVAR:1723160 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1ea8d20-b7e2-4dad-8d45-6aea8c582d31 CLINVAR:1723169 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 031646c8-f2c3-4c0c-b6d6-f6a7f7021876 CLINVAR:1723169 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad2b3f78-3d95-43d6-8f67-5914ee71d271 CLINVAR:1723171 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2946261c-114a-49f9-bad9-6f51bbd48962 CLINVAR:1723171 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6541baa-22c8-4972-85a3-2ac4ba8f7849 CLINVAR:1723172 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b9e2c9f-8ef4-4f70-9bb7-3dff4768efb1 CLINVAR:1723172 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c27d3911-0bdc-4cb5-9d1c-86b7774da7f1 CLINVAR:1723174 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52e077bb-1f01-4fba-84cd-6dec02164b3d CLINVAR:1723174 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d5c5d62-6b8a-4fa3-bdbe-b66989f320d4 CLINVAR:1723161 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 888c804b-2c9f-4935-b837-c207172fb47c CLINVAR:1723161 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab59391-c70f-458b-9168-7010551fd521 CLINVAR:1723162 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 991be9b6-a221-4805-b24a-f5dc47a1d9bc CLINVAR:1723162 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f17dde-39c6-46fc-9f4b-18cf124dd20d CLINVAR:1723163 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 003dd1c9-b53f-4c4f-a293-6dbb99b56ee9 CLINVAR:1723163 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62b42d24-36cb-442a-86c1-7d2b2d08ca81 CLINVAR:1723164 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d37a9c5b-0b5a-49b0-9123-50023a8aeb1a CLINVAR:1723164 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d16fcf98-4a53-477c-9f87-f46add324df3 CLINVAR:4036 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 250fb43a-18c5-4459-9f59-17016284e5c3 CLINVAR:4036 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30532936-1a1e-4d56-aa99-9e4d759a027c CLINVAR:550327 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3702fc5b-5327-4828-a0c9-51d34ed00c00 CLINVAR:550327 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693064bc-e0c4-4148-88a8-3a9ec7e2f669 CLINVAR:526518 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb3ccc00-9b80-4736-bc8e-158cbd4413f4 CLINVAR:526518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869d786b-63f2-4a97-936f-df7637b09e32 CLINVAR:289361 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32883911-8803-4d5e-bd4a-d54e2b88f530 CLINVAR:289361 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a56850f-89e6-42cd-a965-a2f0e3371acc CAID:CA915940949 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65513c3e-7d49-48d8-b803-38d1b7f35d1e CAID:CA915940949 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ecc33d-4ab4-4420-811e-94454b030738 CLINVAR:200100 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f8f83a4-9a7c-4722-ace9-99dd0a47cc1b CLINVAR:200100 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59521ddc-5121-4aba-91e6-6452860f4799 CAID:CA392317923 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 452b8005-9642-4d90-a846-a05b93457de1 CAID:CA392317923 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be725f1c-b7ba-4865-a4ee-5313298b508d CLINVAR:200041 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6125192a-db19-4fc3-9e52-43a138fd195a CLINVAR:200041 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce2f364d-017c-4fea-88fa-687587156149 CLINVAR:1325453 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8efc0240-5d8a-43f0-8fc0-60ffca37fad6 CLINVAR:1325453 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c2e961-c36c-4910-8d24-e9b54970d518 CAID:CA392325153 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 441278ea-f924-45ff-955b-b209630701a9 CAID:CA392325153 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e34cbe91-65f4-4b60-838b-75cefe337450 CLINVAR:549232 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0eb14f5-b204-46da-8475-ecf31ff04b07 CLINVAR:549232 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cef89112-346b-4e66-b6d0-8bd008bb397e CAID:CA915940948 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c600418-6a8e-4a1f-a72c-9b64582f34e6 CAID:CA915940948 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9ca3e6-1b0a-45e5-85c4-4886572f17a6 CLINVAR:161245 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd589e7b-3dec-489d-9401-77dc8533dee7 CLINVAR:161245 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 787f5479-adec-4968-8de2-5402b27c37be CLINVAR:549394 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39a19616-8def-452d-ab60-ccd04e72799b CLINVAR:549394 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e5767bb-28d4-4023-be7b-072416533130 CLINVAR:200064 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 661ee718-4ddf-4454-8080-8484a22088dd CLINVAR:200064 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 265e3b03-4448-4231-97dc-8023aebe367d CLINVAR:143490 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b74c989c-17e4-4276-9aeb-e15fcfca5f8f CLINVAR:143490 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41255c5b-b027-4a45-bd69-5718c8d8e25a CLINVAR:143549 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec94343c-054a-4242-828c-dc1c93628a8e CLINVAR:143549 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a04bcee-b968-4f52-83f4-836ccb3eec91 CLINVAR:143550 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0647feb-5dfa-451d-8ac3-a4c2f480bb72 CLINVAR:143550 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 172bfcb3-537d-4008-b8be-0118022d5ae3 CLINVAR:143560 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b83dca42-97f9-43e9-b677-5294b52bda92 CLINVAR:143560 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba822fa-1af8-4044-8f1d-aa9dfc753e16 CLINVAR:143585 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7a36d36-cf70-4065-86d7-e2fcc20a6bc7 CLINVAR:143585 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b79d441d-840b-4cb7-8738-04e5b9f16506 CLINVAR:143589 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6d32b99-1703-4bc3-af61-09c170df1af3 CLINVAR:143589 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5052ec2f-05dc-48c1-bf32-1d2f19a7c7ee CLINVAR:143742 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d87106b-a803-4031-bf06-07006ac7cba2 CLINVAR:143742 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 556b3cb6-8eac-465c-a067-3d431863b6d9 CLINVAR:143340 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 781dd5e6-1dda-4afc-a4e8-d2c4b912d2c2 CLINVAR:143340 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4653ffe-a70f-4825-8fd3-617b2a26efba CLINVAR:143656 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5be49d37-5eec-4450-86f0-7f46aec2e1ab CLINVAR:143656 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c0abb1d-8738-4e9e-bf39-a913753adc52 CLINVAR:189732 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8205a869-f992-4331-8236-eeed7c6433ad CLINVAR:189732 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d098d7-384a-4c0e-a57c-2bf9a086d1f1 CLINVAR:189754 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7b7c4b5-5686-403a-94f0-a9f9d6af8afb CLINVAR:189754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d6c954-1865-4e6a-a526-6fe812d90484 CAID:CA399802454 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07c9d588-6813-46c5-84d8-adb2b7e4c662 CAID:CA399802454 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3dcfebe-b317-4a57-bbbd-0a603cd8313b CAID:CA915940214 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0795f3bc-3e23-450a-a2e6-aee4154034a0 CAID:CA915940214 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a6d47e6-958b-4414-9edb-365709bda8a9 CLINVAR:1684418 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da5ecb9f-e0d8-4379-bf4c-6f575732817a CLINVAR:1684418 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b13f573c-8e34-426e-8742-101bce7d151b CAID:CA915940264 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c3b35eb-680d-4ad3-8c7f-6d8470fee5bf CAID:CA915940264 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edac7a72-b92e-417a-a98c-37b75cbeba05 CAID:CA915940225 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fb39235-18a9-4a3b-87cd-c2658c367261 CAID:CA915940225 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 019adc90-7735-4c40-8d16-060ff9fcf1fa CAID:CA915940263 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23ed92ee-e033-4124-9073-0c6b80a5e79e CAID:CA915940263 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62dc7dcd-88b9-4ddd-8837-106a81481376 CLINVAR:1879057 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8879de6-6243-4de8-8bda-586df05c2a19 CLINVAR:1879057 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1071a56d-c789-4df9-9a1e-92a1dc019559 CAID:CA399805008 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d21cdc9-998a-49ba-90f7-134a69451607 CAID:CA399805008 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 424091b5-6be3-4796-ab5c-a016e2f57d9a CLINVAR:1703874 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32bf6d9b-ab04-41de-b2d9-47207d70c113 CLINVAR:1703874 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8090b8c-0d9c-451a-8d88-e38113b98156 CAID:CA8603099 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2a4091b-c223-44c9-b247-7fdad20d7d7c CAID:CA8603099 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ede5c1f-4df5-456d-b929-e04327080203 CLINVAR:13563 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d07c2363-1dd8-4e59-9863-838955de71ba CLINVAR:13563 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df74bf19-e0bd-4f50-bcf5-142faddbc5e6 CAID:CA915940805 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0beba06e-2bef-4efe-af29-83de08fe0073 CAID:CA915940805 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7b4c0cd-44d4-4e86-bb07-47c20e7e1b14 CAID:CA915940766 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9bf593e-a012-4090-8960-524672e2e266 CAID:CA915940766 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc96d9b3-2831-41b1-92d3-11b07da89a8e CAID:CA915940767 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aaa93c52-4207-4735-9b03-0aad322ec8d8 CAID:CA915940767 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 382c0507-a2f3-4d11-9249-266c71d85eba CAID:CA399804480 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db15162c-2bde-47ce-877d-d82e4f8e5180 CAID:CA399804480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8e469e-c144-4e98-ac9e-ef798bbe5eac CAID:CA915940267 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3d50754-2339-4d5e-ae8a-1479349c762a CAID:CA915940267 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e0751ca-73f6-4476-92a7-f9706383ca95 CAID:CA399798192 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c588f43-8ac8-4478-a238-092f8ba9d17a CAID:CA399798192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a2f48f3-3e14-4647-9993-6f4f3c9a3fd6 CLINVAR:1703869 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f09dbfdc-4939-4cf7-ba84-6f5d5017035e CLINVAR:1703869 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880cb70a-e3b1-4611-9ecd-bdae4666ef72 CLINVAR:1879045 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78b65a7e-bad5-4224-98d4-515f06ee6514 CLINVAR:1879045 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dae80db-d22f-4a24-aa78-7893ca822ed0 CLINVAR:1879044 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e615f0fb-0950-4ffe-a8b7-9084f7397ed6 CLINVAR:1879044 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b43ee80-b84b-4742-90d1-375eb82319b4 CAID:CA291224896 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0826c6c4-1681-46f0-8f2a-2bafc3fff942 CAID:CA291224896 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c99f60b6-c588-4bec-ba36-95a1e11b7fb9 CLINVAR:1879042 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea7ae36c-c24d-404f-b681-97c72e7a23c0 CLINVAR:1879042 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f493bfb9-594d-4a97-abdf-efe6853a4f67 CAID:CA400031679 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c05c0f04-eb21-4f85-8d1e-d9607f0bc266 CAID:CA400031679 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d5ffa8b-15b9-4072-b9a2-541856750eb4 CLINVAR:1879040 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8e6b699-0b0b-4991-bf65-5cf36e66645d CLINVAR:1879040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e615116f-f447-4bfc-9e5b-af4cb1ce7e42 CAID:CA399806223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6afda6e7-7e17-4dc8-993d-f74761045ee9 CAID:CA399806223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fac52ec-ccb2-4267-acd5-086e1c7fac38 CLINVAR:1879046 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cdcf3b2-5d6a-4806-ac66-5a018b982428 CLINVAR:1879046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1458033f-5904-42d8-81af-b06123d5e625 CLINVAR:1879048 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a5dce5a-c4d1-49cd-bdf0-e3b35927c4e5 CLINVAR:1879048 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10456039-ca26-4f98-950e-cd1c0f309298 CLINVAR:1879039 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa540a38-26ea-4855-8aae-2131ddab176f CLINVAR:1879039 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac63c455-f9ae-419a-9f05-2594fbe61382 CAID:CA399787972 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34f93755-c4c1-4739-9b2b-fb463784e1d8 CAID:CA399787972 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 362f1c2b-1cad-467c-8150-c57efb424d0b CAID:CA915940334 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4be6254a-0bf3-45ed-baae-7b028a040e7d CAID:CA915940334 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ecf5bd5-9213-410f-acc3-d7e60e50c6f7 CAID:CA915940374 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab9e9422-84a1-4957-8fa3-94291577db54 CAID:CA915940374 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 294539f2-3404-495a-b7a8-7e6981009059 CLINVAR:1879034 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24e5b8ba-5203-49d5-b328-2a6537605bba CLINVAR:1879034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 073321d4-cdf2-465a-9d18-df03f7f95206 CLINVAR:627151 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69fcb126-ef13-44d7-8718-7d9f33162b87 CLINVAR:627151 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 115210fd-3041-49d0-b760-b680baa823a8 CLINVAR:1879033 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e70d1863-74ba-4b01-87b0-13fe2a28a7a0 CLINVAR:1879033 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3a080d-24a5-4021-a500-a345cf4f8eba CLINVAR:1879032 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da477a39-930b-4820-99de-4d23ffcee70a CLINVAR:1879032 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6006920d-d300-494f-9a35-d81810886735 CLINVAR:977126 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fb31724-a3cf-4b01-917b-72d4224eebc5 CLINVAR:977126 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 696b1a71-0c21-4ab9-a03a-7a6835f0855a CAID:CA915940788 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e0b2a1b-070d-452d-b104-d976be60cacf CAID:CA915940788 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f8416fa-7ab9-4175-b5e1-16ae4390c8f3 CLINVAR:1879030 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ea7c99c-9a61-4f4e-ae42-f5eef2c3d41c CLINVAR:1879030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db0a18d3-7570-43be-acec-6985171cbe13 CLINVAR:1879029 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c76791f-2a42-4a76-9995-2649abf19498 CLINVAR:1879029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a384a3da-e2c2-4513-975c-91eb263b2673 CLINVAR:977131 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52f16afa-4b71-4f7c-aabc-427dcf1480ad CLINVAR:977131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d989a2-7750-4524-8270-712947a24418 CAID:CA400031690 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fd2748c-c65f-46f5-8eef-869b0e96ca66 CAID:CA400031690 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4395df1-cb90-4862-a1f7-136c1b1a39b0 CAID:CA2573131753 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78455999-efb3-4da4-b11d-e4c757509085 CAID:CA2573131753 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 712650f6-e96b-4062-8e49-41993e52ab2c CLINVAR:1879025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 085d8a79-f321-4ed2-9578-8a390a064827 CLINVAR:1879025 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3c2d804-83bb-4bc1-bbb7-2b56c124ea80 CLINVAR:1879024 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dab5ef02-1daf-44c1-aee5-54472ebb536b CLINVAR:1879024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e68bb3-d8cd-4321-85ef-f85824dc8e0a CAID:CA2573131754 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 069190f9-1e0b-4eb0-bd70-517c2344905b CAID:CA2573131754 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5865aae-595b-4e54-9a13-8f5aea90a832 CAID:CA8603039 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0625ea4e-9b82-4f90-b0f9-f1624a92555c CAID:CA8603039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 384f4e38-97f3-41a2-8543-9db6c7ce397e CLINVAR:1879022 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6af356a5-e277-4921-b37c-96c65b1696a9 CLINVAR:1879022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24f4e43e-b927-4413-806c-f55df84960ba CAID:CA915940806 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b38a2339-8f9e-4f56-9280-f2e62b6ca365 CAID:CA915940806 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14e86d6-07a4-4521-9028-c39e7cf6fc36 CLINVAR:1879020 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1af97f9a-c5ab-4530-8bef-371ab23510dc CLINVAR:1879020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a52fb2f-d086-4b9c-9203-d6a0ebc911ae CLINVAR:1879019 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73533522-0d33-423d-abc8-20ecbddf13d1 CLINVAR:1879019 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a0b0ac-5a16-41b2-9de6-e191c858ce0e CLINVAR:1879018 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b08b036a-189e-481c-b483-2759690da8e3 CLINVAR:1879018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb90332-dcdc-41b8-931f-763684080f41 CLINVAR:891157 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d33b5c05-de02-4f23-9790-e2869ab8048b CLINVAR:891157 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e524ec3-74a3-41fd-be1f-3e3db789f733 CAID:CA915940222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebfad9f0-bff9-4ffe-a373-642102aa391c CAID:CA915940222 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6efa35-84bb-42cf-9941-9bcfb8a6ed71 CAID:CA8623068 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7a2db6a-71a8-466f-8cb3-dbacccaaa0b5 CAID:CA8623068 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c10d0283-bfbd-4c5e-9d5b-7c86efe38930 CLINVAR:1879014 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d925d5d-260b-4c48-8410-ec21727ff20c CLINVAR:1879014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42fc658b-39ab-4631-b7bd-ab3b1a32d6ee CAID:CA399802478 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0aac3e77-e246-4c39-9a59-922b55d71b68 CAID:CA399802478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 575bd2b6-5af7-4bfc-a179-fca312ed4da2 CLINVAR:1879012 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e60ae3da-37d2-4272-a74a-4832d07f0420 CLINVAR:1879012 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e15927-fc91-431e-b3c3-a7f8c0b0474b CLINVAR:1879011 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ae7a9f8-dbd7-48c2-9bee-a042a74bb949 CLINVAR:1879011 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec4de1b3-49a0-4af8-b2dc-1f5c782ab7d9 CLINVAR:1879010 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8793fc5-8dfb-433b-aec7-fe7e55fcb35e CLINVAR:1879010 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 927dfbdf-401c-46de-bffb-f2b7e86d3695 CAID:CA400024958 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90afdd7b-7201-403f-ad37-9efcb4d3eb6a CAID:CA400024958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 186696eb-53be-42a8-afad-f7a6eab410f1 CAID:CA399806951 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f88952b0-5f8c-4185-b9a2-33ef8a713d9b CAID:CA399806951 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19bee870-2366-425e-98f9-e1b901725820 CAID:CA915940223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3f5b0c7-981a-478c-9100-a26092ea9ae2 CAID:CA915940223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3399892-5946-4d9f-85d2-e1bdc8ace18a CAID:CA399792888 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6856f2a6-f07c-40ea-8df0-208ce78a8b1c CAID:CA399792888 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5fe71bb-8298-414c-b2fd-24bf9049d813 CAID:CA400028645 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c022a47-3974-4759-af96-3f87c7f6ca4a CAID:CA400028645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02384960-d805-43e8-9ec9-0ad8e0de02f9 CAID:CA399802559 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d82c440-1957-463f-9b1b-03372b277931 CAID:CA399802559 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9096f282-5f36-49f6-b21b-84d5d500ac8d CLINVAR:100811 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 076a7255-eabb-4361-b7d9-329158f82863 CLINVAR:100811 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cae0f21-b73c-4ce9-b49e-3085c112c292 CAID:CA400029664 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7e197b7-8b1b-4562-9c7a-ecec5bff0e02 CAID:CA400029664 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6e837a-da7c-483c-999c-86c14ff8ddec CLINVAR:1879008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf8429b0-92be-4b62-bbcb-94ef80bff3f1 CLINVAR:1879008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3593db2d-a817-4fe0-a725-d159d0a097fc CLINVAR:225919 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e86045c-7188-47a9-8e1c-64ba816a188b CLINVAR:225919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73649bb5-1efb-4c07-ba85-b0a8d830df32 CAID:CA6748745 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51fc355d-f2c8-41fa-ba39-fe5fe583bb31 CAID:CA6748745 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35040a49-dc71-4316-b98d-e7e67441d582 CAID:CA386299735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f646dc3f-28be-44a6-b1ad-7f8fe44aea78 CAID:CA386299735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c21ae0cc-a257-483b-a61a-acc46a2f8ef3 CAID:CA386297078 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74091e0c-b06f-4121-86b6-be3d7054c34d CAID:CA386297078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29cc913c-e6d6-4ce0-a60c-75d7e208b82a CAID:CA386492906 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6e520c0-56a9-48eb-86a5-80f485c96ec8 CAID:CA386492906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ae36515-8986-4de5-910d-946b424017f1 CAID:CA16020960 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09471cd1-e40f-4999-9569-a774ddc3301a CAID:CA16020960 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e1a687-ea00-44e4-bbbb-070b50e88259 CLINVAR:102564 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3241d6be-d44f-4512-87b6-fda6c91a2228 CLINVAR:102564 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb15b588-4924-446f-a2a0-45afa4137b27 CLINVAR:102653 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3921a8f-bc9f-48c2-8a21-f0720aed404e CLINVAR:102653 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b9a0fde-f2aa-408c-90e9-25280748f322 CLINVAR:102574 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca3d3396-52b1-4b7c-9f37-ee785ab957ba CLINVAR:102574 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5c52ad8-9697-43cb-b160-36e491fee19a CAID:CA481331323 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03483cfd-d38d-4f89-a7f9-22f9e9425722 CAID:CA481331323 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3472af72-a4d7-4976-a5a4-b199de204ee6 CLINVAR:102603 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36ca14d9-0260-42d0-ba76-de5606a43136 CLINVAR:102603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a030e7b6-9893-4624-b2e4-a6e53da87334 CLINVAR:102730 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36086434-2f97-4781-9310-3a0315a738f0 CLINVAR:102730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cbf468c-16d3-4061-a0d0-e92be6d2aaa4 CLINVAR:417917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba7a7670-ef00-4352-a3d4-81fe50fd6686 CLINVAR:417917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79298b72-065b-4147-9896-069536ca76e3 CLINVAR:854401 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f35c333-fad9-4960-b5fd-4a53bde54b27 CLINVAR:854401 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c91783b-fc6c-4407-8014-75d5b0e4f6a7 CLINVAR:474895 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff68c013-dd38-4415-a129-95ff3db2b46b CLINVAR:474895 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d656a5a5-497b-4191-86e2-8710b96c033b CLINVAR:971356 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dba2797e-2e66-4040-9100-a9f3661e50c2 CLINVAR:971356 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f6e96ee-491d-4440-b540-07a39e7f56c1 CLINVAR:555644 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 474cc594-fbc2-4f0c-8b57-86e7cfbdc2a0 CLINVAR:555644 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce83e6b7-b6b2-4260-8a9f-f2b7d9af6e4b CLINVAR:661308 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5929327b-fdb9-482d-95d7-53b41c2b7c65 CLINVAR:661308 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d15291a-8c30-473b-942a-e89e2d285f63 CLINVAR:1632 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 924a9a29-5e09-4382-b8af-15309c5917dc CLINVAR:1632 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 364af3c7-39cb-4d82-b04f-47fc1fe0c162 CLINVAR:203592 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6883cb0-4d3d-4443-984f-8990ccf54d46 CLINVAR:203592 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f962296-7824-4434-841c-329bee84bb2a CLINVAR:839947 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 246f1d17-544f-4025-aaff-9a04b1253c8a CLINVAR:839947 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c8611d-2e9e-4e9e-82c4-c68426fbbebb CLINVAR:92290 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fed7f791-b80d-4e4f-bd2a-4ff3e42406ff CLINVAR:92290 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3386d078-8930-44db-a82f-aae408c862f3 CLINVAR:21016 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 338e924b-97f4-4663-bf57-bfebab73aaab CLINVAR:21016 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e76a85-42bb-46e0-9113-4682c01d55c0 CLINVAR:1634 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7cd42aa9-eecc-49fd-af06-9a2d63265170 CLINVAR:1634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ae954d0-528a-4e76-979d-48ad6eb8cc24 CLINVAR:21019 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b75fc780-1086-4051-9467-abaa753348f8 CLINVAR:21019 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0137f7a4-df78-4ed4-9e39-ef3e68de6ede CAID:CA1139532270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0510d9ea-7ba7-4e11-885e-2859ff4a21e9 CAID:CA1139532270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab8cffd-002e-477b-abd1-b618633dadcd CLINVAR:166641 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f6cb70e-9691-4cfa-b444-691da6d44772 CLINVAR:166641 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a00c19-75cb-41cf-890e-969c6539a766 CLINVAR:807359 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ac0e00d-72b6-4c42-9a45-d481b6cba494 CLINVAR:807359 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dbce2f9-8655-4075-8708-66f334f63838 CLINVAR:370717 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da21643e-6336-49ea-9905-b110c7ba794a CLINVAR:370717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ae829f8-3d32-49ba-a336-83559c633417 CLINVAR:581080 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 149ffd36-54a0-43f0-96ba-a855e0b776d9 CLINVAR:581080 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 178358d6-ff23-4175-8e51-47033ffebbb5 CLINVAR:92283 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f22fe784-b73d-4f0f-840a-70aa9578f0da CLINVAR:92283 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6840754f-4fdb-4287-8815-7e7f31d0f19f CAID:CA916084367 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad960e53-c0ae-4f35-a169-4af76eb5309b CAID:CA916084367 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e522162c-2525-4066-887b-1c173f679a79 CLINVAR:370770 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3a3ab82-b365-4cb6-9059-7030b79d10aa CLINVAR:370770 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b61b39a-f5c8-4f22-b2a2-fae241a250fa CLINVAR:166646 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9829b37-d90a-4f80-b15b-ab9140fe9635 CLINVAR:166646 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b74703b1-8019-4a72-91de-849e7dbbb9b3 CLINVAR:932835 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 312b4735-66ba-438a-9a8d-67e490f6e586 CLINVAR:932835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f769956a-bb25-4423-b5e1-d3eb19eaf776 CLINVAR:557136 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d81e94f-2369-4b94-95d7-85a0a2e02c70 CLINVAR:557136 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a94906fc-d016-44c3-8e56-947bbb66ea8c CLINVAR:418698 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04842fa1-c519-4da3-b127-7922ddc79ad0 CLINVAR:418698 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42a3aa26-f42f-43dd-93b2-7e72cd385191 CLINVAR:1075156 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06b22dab-2927-4b94-b0a9-0af19255e5fb CLINVAR:1075156 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab9e86a-d3f7-4bc5-9ed3-b651316dd851 CLINVAR:1622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 743b22cc-eb9b-4f0c-a3c0-677ad0ab424a CLINVAR:1622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35445156-2378-483f-9e7f-cc2055804ff8 CLINVAR:932851 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58823d38-7e16-436e-8c5a-f13d0518d61b CLINVAR:932851 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bdddab4-e2d8-40be-8059-67acc600302e CLINVAR:810875 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1594526f-c05a-401b-b3da-ce14852f5741 CLINVAR:810875 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d79985bc-fc5b-4856-98ca-414790b34186 CLINVAR:812785 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e199334e-f187-4666-95f2-d13ae6a1d899 CLINVAR:812785 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eebfaa78-5192-4599-aaab-ef0ba57842ba CLINVAR:203595 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3eb7831-1ac4-450a-8273-5f190d571698 CLINVAR:203595 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f82b3b58-7b8c-45b2-997c-c77857945d64 CLINVAR:932788 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea4bb538-2dcc-47a3-b7dc-08f51888289a CLINVAR:932788 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5985a144-02cc-4d70-b6e0-6132988d380d CLINVAR:439361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed96e92b-647d-4e2d-aa60-7ef0ea2c1385 CLINVAR:439361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b54a57-c875-4cc2-a6ad-0ae895bb1095 CLINVAR:1073505 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6a3b445-4c4f-447f-aa8d-29a0984f9990 CLINVAR:1073505 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad86eab-5adc-4310-95ce-9ae45506c719 CLINVAR:876022 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27970005-9e4c-4732-bddb-36f775292e5a CLINVAR:876022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02fb4f46-7f03-4518-9d41-125140b53213 CLINVAR:1810373 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bee15ce4-fcec-476a-bf8f-bbba04caa100 CLINVAR:1810373 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1687dc-ac15-4f07-a0aa-99c2ade3914e CLINVAR:1810374 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e25a9f6-5f19-419e-80c1-8b092f7a17d2 CLINVAR:1810374 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb627334-8a32-41b0-84ef-2bbec7f3dcff CLINVAR:1810375 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e91f7d33-0db3-4d11-aa9c-c5af361ae92e CLINVAR:1810375 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c4cec14-0f51-4664-b286-f17e7ac7a625 CLINVAR:1810376 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fcda56e-586f-4a02-8b1c-8efb8011fc23 CLINVAR:1810376 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a223ae1-0d15-4fd7-832f-30ba955bff6c CLINVAR:1306862 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0333f961-422a-4963-be5c-80a2f9976119 CLINVAR:1306862 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b91461ab-4d12-4511-bbe4-f08194d43085 CLINVAR:1810377 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3df2449e-0e98-4a40-a7e7-51906c36ad07 CLINVAR:1810377 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41987485-5eac-48d4-8856-13646d437e4f CLINVAR:1803197 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0817579c-3a2e-4d92-b0cd-e15056c39e69 CLINVAR:1803197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4856b66d-b374-436d-8f90-6276de697950 CLINVAR:1810378 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50882241-ba07-4f0a-8792-5b800936138d CLINVAR:1810378 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1652a9ae-e1b2-4148-8793-05d63ae360e3 CLINVAR:1810365 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dca7eb13-48b1-4d81-8774-e8f22587ea37 CLINVAR:1810365 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba25752-0d20-4d3f-8ccc-e1a49359ea48 CLINVAR:1684936 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55334808-3516-4148-b4fd-8154e348d35a CLINVAR:1684936 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7cd51bb-5802-4b4f-af74-6cd44f4b0575 CLINVAR:1810366 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89896082-beff-4836-b206-0a27fa434999 CLINVAR:1810366 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf701856-ac7d-4b60-9f32-bef4261587e2 CLINVAR:1810367 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dfd1384-3c9a-4c61-a440-e4a7095490e8 CLINVAR:1810367 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdc32017-01fe-44d4-bb1e-6ff71aef104b CLINVAR:1810369 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29a5894d-eb1e-4d1a-82f6-4c16e0b45791 CLINVAR:1810369 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b7485d2-d1f8-495e-90ee-61c7cb197da7 CLINVAR:1810370 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 152818b9-e89a-427e-9924-6c1266954356 CLINVAR:1810370 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f285067d-5e84-4f34-952a-455c6071bab8 CLINVAR:1810371 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b425647-3308-4079-96c0-a60140a6e6e0 CLINVAR:1810371 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8310dd40-8b71-4f3f-bfb8-b75c4424384e CLINVAR:7957 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 721e13c3-aa8a-40c3-9582-b2ef83f3ce7d CLINVAR:7957 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0a2c32-bbf0-4923-b71b-cface0cca5ed CLINVAR:1810372 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85402ac0-ebf1-456d-8a6a-b104d7d2b91f CLINVAR:1810372 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9f76359-2144-4df1-b3e8-c7d340db2218 CLINVAR:1073342 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4f75e33-91bc-4308-936c-97512875bf76 CLINVAR:1073342 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 796fd884-2eb8-4f16-ae08-487786df387f CLINVAR:1628 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d970f290-7a1f-44e7-b1c5-b2204b5267cf CLINVAR:1628 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121fb6fb-2b85-451f-9bcd-1767672876a2 CLINVAR:818026 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98921efa-1b50-4e44-9121-68153fa8a7e8 CLINVAR:818026 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5376c71f-355c-443a-927b-d89d47eeecb6 CLINVAR:936835 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39fa18d5-0599-4ef4-b446-eb75560c36f6 CLINVAR:936835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ac7233-7b41-450f-9170-754d22557903 CLINVAR:557078 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1119d353-e4db-4892-b0e5-39c1cf68d2be CLINVAR:557078 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7886e350-e344-49e3-bf15-bfdf2a91074d CLINVAR:550315 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5785e5f-b828-4eaa-9981-3e6e1654dc56 CLINVAR:550315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 721f937d-e5d7-47ec-b0fa-ae30958d1c02 CLINVAR:474901 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4aa5e7c0-4da6-467b-b4f9-7b221c37fa93 CLINVAR:474901 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c11f193-a38f-4c9e-824c-f8ce6d251246 CLINVAR:203591 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8d3eec0-b9d8-4d79-ad7d-1bcaeb814f9b CLINVAR:203591 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 074c1367-5371-43cd-b1b1-fe02cc62fb08 CLINVAR:595610 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08c69972-3429-450d-8d3a-158988d6f77c CLINVAR:595610 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930c633c-a7f7-4a9e-a155-054f16aa15e0 CLINVAR:194317 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 682f5b1c-ded4-4364-aa4b-f2056196a3d2 CLINVAR:194317 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4644e300-8832-4bf4-a35e-978b5cc31533 CLINVAR:429730 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bcd9e97-d45e-472f-bdeb-e1cc080ef98d CLINVAR:429730 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e150f21e-18d7-4ee0-994f-f1841ecb452a CLINVAR:932833 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5be3a81e-a9dc-49ba-8089-57962880156f CLINVAR:932833 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f997f362-08ce-4ebe-8f57-48879f085d2a CLINVAR:379145 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65552a33-acdd-47b2-aa81-14935a340795 CLINVAR:379145 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10cb9503-0ad6-451a-8c07-46fbe98e25bf CLINVAR:4035 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 765aa225-3f2e-4f59-90b4-28bc0c6b1b8a CLINVAR:4035 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03171192-f8f5-4cf7-9bd4-08bb3ae46dd2 CLINVAR:972747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7684386-bf59-40f6-a483-b579d52c0e89 CLINVAR:972747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 803e6036-e3e3-40d1-b515-61521c647067 CLINVAR:198393 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62d7364c-7017-4c0e-8a3c-06082c217eec CLINVAR:198393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59762c42-8161-4aec-94bb-d460c6ef9f3d CLINVAR:930445 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0caff975-9613-4ad4-aa47-ccd27b62e206 CLINVAR:930445 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c02f4c9-8e0b-4f1b-bbfa-b0f0a68e1705 CLINVAR:495664 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72e957f7-b8f0-464c-a807-b697c7424894 CLINVAR:495664 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 147b1a7c-aebc-4ab4-a3b8-ebbe3e5a1f4f CLINVAR:550825 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfce2647-1d4a-4b09-b5ac-cbaa92d5ebf2 CLINVAR:550825 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bcf8f76-39cb-4091-8115-30b0ba02bafb CLINVAR:283230 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e86b689-e617-40f0-804c-779b8cd67fa5 CLINVAR:283230 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b65fe3b2-34d8-4bac-a8c3-7389ae50f859 CLINVAR:557811 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a8ea9cb-30fe-4211-befa-b773a7d04c1d CLINVAR:557811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d545eef-d20e-4ea9-81a9-cad5251687b7 CLINVAR:1308288 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6908bca9-ce5c-4dbd-8c7c-bf11059d5812 CLINVAR:1308288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85635f5b-f386-4c79-8bf9-10a69648634e CLINVAR:597944 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0ca0f83-85df-480b-b00a-77bde638dc6a CLINVAR:597944 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c1e24d-d830-41b8-9447-b7fea37f96d8 CLINVAR:237861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76a65395-b45f-4723-9399-96d5a36c6141 CLINVAR:237861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67756f2b-1126-4651-9839-bdfc392beda4 CLINVAR:251895 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90a57450-5e69-43e0-b7d0-a4b4e214afd2 CLINVAR:251895 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ca310e9-7dac-4c6b-9eaa-de166725f653 CLINVAR:252294 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c730657-55ec-46bd-a1b3-8b09f4c459e1 CLINVAR:252294 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b55c336a-df74-4a58-8165-6ad4cb50220d CLINVAR:252295 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e04646ae-c821-4e3b-a0b1-7bd53895588c CLINVAR:252295 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b5262f1-1c25-4605-b0dd-1ada8cd1aad4 CLINVAR:251138 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f56b072-2d72-4011-a06a-0ddedc3d881d CLINVAR:251138 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c955e7a8-8c1e-4583-8d49-c560e830dbdc CLINVAR:251876 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 976ffeb9-5896-4706-ae82-68eace569921 CLINVAR:251876 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691a49ef-ee0d-4e37-b7ef-23c94bd64e44 CLINVAR:251808 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 667ae0dd-be36-4412-b33a-81751b405a7b CLINVAR:251808 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ecc5b2f-f8ab-4244-a851-fa62ed5bf41c CLINVAR:226382 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85d2125b-adb9-41d6-9bcc-d430a6b3a25a CLINVAR:226382 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c43ce9-a3fb-49a7-9b41-c3b05d0eb2b9 CLINVAR:183129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa07d8ef-8746-48a2-be89-9513fdac9ed0 CLINVAR:183129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4583c75-3fa8-40b7-b1bd-ab67263031a5 CLINVAR:927435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7aadc26-1ccc-4108-b309-372cc174b7e6 CLINVAR:927435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c950831-7e0d-4724-9220-559bce84de07 CLINVAR:430743 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 395f12ba-ace1-40c6-8017-e3941178f353 CLINVAR:430743 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f73f3b-e768-4d1a-9e0c-9b7e4be4e8c1 CLINVAR:252325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11a75601-f3c9-4896-9b38-406aaa5de022 CLINVAR:252325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bbd61d1-cab1-4d3d-be3b-be0355fb129a CLINVAR:252110 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a7b9125-f0de-4e2b-bcd1-7b1368383bd7 CLINVAR:252110 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 196e4ed8-8835-4bbc-958b-41ccefdeb135 CLINVAR:252109 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95316bb4-14d7-477f-8f1e-cafb7084b268 CLINVAR:252109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 945c00ca-2728-4a8d-8eb6-a9fccc923133 CLINVAR:438327 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e8709b2-2747-4eda-964e-ab1b7596496f CLINVAR:438327 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16741932-f15d-4a66-baff-ae8ea8c9b6c3 CLINVAR:250946 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a59e1670-bd0d-4b61-9fe0-fa1cde8a8932 CLINVAR:250946 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3006288-3984-4250-a88d-5ba6c9b98782 CLINVAR:251097 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01171148-20f6-452a-9e5b-880c9c4b5816 CLINVAR:251097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ae8e75e-564f-485d-81bf-0e4faf0a3f95 CLINVAR:252258 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cce366e-fabf-4d31-915e-c2f3be46fa0b CLINVAR:252258 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2749b15b-8058-4e00-a370-e6825f08ef4a CLINVAR:403628 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22321d9f-04dd-49aa-8b5c-41af40e8b028 CLINVAR:403628 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0080676-e757-4a44-8eed-f0aea2c098de CLINVAR:250982 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9838b6f9-b24c-46a1-a5e8-e53aabf801a8 CLINVAR:250982 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67356c02-aafa-4a9a-929c-71c560447359 CLINVAR:919564 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1de3be2b-b34e-4317-ab66-975e861a3b31 CLINVAR:919564 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b37300d6-ab13-4942-bf39-ce3abe468123 CLINVAR:252065 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2e9d422-97ce-458a-b36c-8511ef34146a CLINVAR:252065 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9061f6c0-8791-41ad-92a6-970b8e578453 CLINVAR:251040 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56d660e9-89be-4dd7-9d81-4deac0e91382 CLINVAR:251040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34961c31-1c23-42f0-85ba-4f6b0b8a3109 CLINVAR:523722 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec079319-4da1-4293-a537-560e233e4370 CLINVAR:523722 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe5aa2fc-41f2-4c41-baba-8a0c1bc41086 CLINVAR:251087 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8879c455-1fc4-4a25-90b6-9d5c72e53c9a CLINVAR:251087 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91516569-629b-43bb-bcc6-2e9a868a5d87 CLINVAR:923296 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4489a1cf-34c4-4769-a279-22b70a648e2d CLINVAR:923296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6818158a-d360-4086-8305-620f67731f63 CLINVAR:430774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ed42a8c-44c4-41be-a6d2-c4cc7fe2a24d CLINVAR:430774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a61617-92a3-4cb1-b074-6a3715a96bd5 CLINVAR:183115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e705b60-1878-4735-b14b-4e6b8fa7c7be CLINVAR:183115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa794129-6ab3-490c-b284-0e0187ee5d45 CLINVAR:252022 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5454ac2-1e42-496b-af0d-af6049cd6133 CLINVAR:252022 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d2787b-e47e-4b81-9c61-22e52a55fce1 CLINVAR:441222 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 183edad0-fabc-4e0c-b0e4-b5fc9842309e CLINVAR:441222 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9b99adb-7f7d-4e76-b6dd-d83379e61e8e CLINVAR:183125 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4646e85e-36e6-4361-bc6d-3f89cd111d71 CLINVAR:183125 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b311e2-09b2-4e6e-8671-9c8b60a4193a CLINVAR:252036 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89fbade1-7588-4153-941e-b2149923431c CLINVAR:252036 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31032271-fc9c-44c5-af7c-50861bae3762 CLINVAR:424578 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d500e453-454c-4dd4-8555-eda2b10a91c3 CLINVAR:424578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9ddea8b-4def-4475-854b-7be6d031c6bc CLINVAR:456652 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a6c465e-4555-4c93-a67f-4ea09bd1ba7d CLINVAR:456652 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a6608b9-cb43-46f6-852d-9fe410b74f1f CLINVAR:252071 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 091a5154-8bc7-4c6f-bd9a-48866ca05d02 CLINVAR:252071 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98308274-e7ce-44f5-b97d-0fc2f61730a3 CLINVAR:251774 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad53b508-ea59-410f-ad93-07128cc45978 CLINVAR:251774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db39005-9d22-498e-b820-651781236b68 CLINVAR:251773 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b96abdd-2376-4f26-a033-40ef0a4cc8ea CLINVAR:251773 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed368aca-d5f1-41fa-a65c-d6e990d8fea6 CLINVAR:251775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f10aff78-58f8-4d33-8767-88299b4a026c CLINVAR:251775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e4767cd-3782-45b3-b941-14c465cc1f19 CLINVAR:496018 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecb414f0-f39b-4688-9f30-6b77b2da24ad CLINVAR:496018 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02004b51-9dd7-4032-a7fb-19b1ad1f3c3c CLINVAR:251510 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9ceb55f-b654-4e0d-8f8c-178232f11714 CLINVAR:251510 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb132833-9a7a-466f-8b0a-1e5115051d3e CLINVAR:430742 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42a4212d-1ca9-4e77-9231-3cd5970b2ec7 CLINVAR:430742 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01c2d589-448b-45d7-92aa-2ba88b71301a CLINVAR:924646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d109dd1-47fd-462d-8415-1bd12a4971ea CLINVAR:924646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70ae1012-c1b2-46ff-adaf-35532b6a6e81 CLINVAR:251704 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e35515b6-ec31-4b57-a9b9-b53b7f94c2b5 CLINVAR:251704 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f6f54a-b782-4774-8c90-eca8e2cdc23d CLINVAR:870321 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42ced243-ebb1-4313-bd20-a5a8ceb21ef8 CLINVAR:870321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9591af80-9cfd-42a7-8075-0e3950c4602b CLINVAR:440630 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 204cf8a3-5b46-4eef-9b99-e838cf413447 CLINVAR:440630 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f71504a-376b-48d8-8c48-4af6b8c88a3e CLINVAR:924165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6f017e9-b9cd-4d04-86cb-6d60b895bc91 CLINVAR:924165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d2bc19d-0370-456b-a75e-2a71cec7a35f CLINVAR:250949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41a97b60-a798-46fa-9298-4a59bb30c4d4 CLINVAR:250949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e659767-3053-4298-ad89-02d194c10ae2 CLINVAR:250952 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb408278-b78c-46e6-90f5-c378296f5e95 CLINVAR:250952 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec32c40-f771-4819-81a5-288ba7001801 CLINVAR:430745 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e92f3801-4569-4489-908f-4567a82c2120 CLINVAR:430745 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caadc492-fdbf-49b6-b1d1-f462ad5bda58 CLINVAR:252046 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a4bad64-dfc4-45f9-bf83-4aa720074236 CLINVAR:252046 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc067c78-9635-46da-8d5b-a11cb5795689 CLINVAR:226304 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc9888d3-7210-4f49-bda4-fb6aaa62560b CLINVAR:226304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7550785f-c9dd-44a5-a1c3-32b530df167e CLINVAR:183108 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb7da8ec-9cf8-47cc-a4f6-f843dbeefd15 CLINVAR:183108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08cc09b4-9772-4de1-9d0a-ce8d611e4316 CLINVAR:250971 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fec36c7-3c14-4545-a7cc-6d7c48b5789d CLINVAR:250971 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 610144ce-33a0-40e2-ab95-994a81e2aab1 CLINVAR:183094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a557f60-92b5-44b7-9acc-031c2657bf34 CLINVAR:183094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c77bd2-0efe-4931-9d71-60d17ec4b67c CLINVAR:927149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0df4852-5252-4efd-a71b-79052b3be6f3 CLINVAR:927149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f73ee12-1ad3-40d8-8de7-30f2c3954abb CLINVAR:440602 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b2372fc-336c-4854-bd44-3d955a99e3e5 CLINVAR:440602 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 210319e8-5d32-4cf0-ab6b-7aef208505c3 CLINVAR:251447 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7007fb94-54a7-4603-ba74-e67fb6b56f41 CLINVAR:251447 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e27fc688-5714-4b68-b33c-420e013aef10 CLINVAR:456412 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35bc1688-6875-42ff-a8b6-18458a95633b CLINVAR:456412 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c9fffb2-a55c-444a-90e0-39324ef3ca0e CLINVAR:143526 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2186aa48-269d-422c-9bb0-02948762f452 CLINVAR:143526 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59658855-1a9b-4ff7-be71-ea1d9f5d70dd CLINVAR:690207 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0b07729-d7b2-4264-bcc4-23cd06c26a98 CLINVAR:690207 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05141530-897f-455c-8685-e12e40a5ed54 CLINVAR:9586 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca305459-a565-4100-b042-89a6f1b72e94 CLINVAR:9586 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb914f33-3c24-493c-9780-2cf303eec261 CLINVAR:42226 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d85385e7-7b15-4210-b62b-a4d55c302c76 CLINVAR:42226 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6324e872-4906-4ed1-bd46-293a919d68f7 CLINVAR:689871 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b12c5f7c-0cb2-48e7-a07a-02c2d5da37dc CLINVAR:689871 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b27f043c-0a4f-4907-914f-c86b95f71ff4 CLINVAR:9612 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62f3c362-2f07-40e4-8d5b-6c08ece93220 CLINVAR:9612 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b7f683f-8824-4ad6-b314-f64dfb70ad69 CLINVAR:9624 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bf0553b-d3f6-4679-900c-eda94075ee7f CLINVAR:9624 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7edc114-5220-4472-8614-d52c8f4e187f CLINVAR:986494 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66dfd4c9-966a-4fc2-9f65-cc5f4a8c9d1e CLINVAR:986494 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b092b81f-3d77-4d52-a20a-7d73ca8d48f4 CLINVAR:986422 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52d6202e-bcd0-4c77-b406-f72ba75e43ac CLINVAR:986422 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad5f664-308c-40f5-8d20-e84d6020019a CLINVAR:9566 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7dca4496-2702-488a-bc98-5252f7da9168 CLINVAR:9566 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 076aedb2-1f07-4bee-953c-23fda85d6390 CLINVAR:932827 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88a75a7b-dbf0-486a-924d-c9989e9c4b91 CLINVAR:932827 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43e3ccf3-7748-4ed0-aa38-150a971e82dc CLINVAR:935797 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b1a4130-066b-4ea1-b61d-746175cbd7c3 CLINVAR:935797 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e0aa72-9de4-4e1c-a2db-4b53b5252546 CLINVAR:932845 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35915354-5694-43e6-9fea-7244624c8e88 CLINVAR:932845 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20a3ed89-1d7d-4002-8cc4-8a62c8c7f85d CLINVAR:690181 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a28c09a-9842-4ee6-bc06-f98e9cc8014c CLINVAR:690181 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0af84f1f-a28b-4484-bf4f-78319d8f2fe8 CLINVAR:689874 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f132c977-2483-41de-ac80-7a6ce3cf2aec CLINVAR:689874 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a6d8800-6a44-4494-88c6-a713588226e1 CLINVAR:379889 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11449788-60c4-4521-983e-17eb7af42836 CLINVAR:379889 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65913b36-a57a-4183-af71-2c042f983f1c CLINVAR:225920 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b49f289-6337-4b28-a228-4ae4f8c9ca2f CLINVAR:225920 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e28cdcf1-fa1a-44e1-8feb-46982532a24e CLINVAR:225916 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2ab518c-cf63-41b8-844d-53a6f2451943 CLINVAR:225916 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41326462-285c-459c-9a0f-1423ed7280ef CLINVAR:225913 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76b86295-34b8-4453-a2fe-e42bf3b5fd45 CLINVAR:225913 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a6cbe13-2493-410d-8de8-120e282270de CLINVAR:917494 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22183348-bba0-4ccf-a0f8-68ea0ff11377 CLINVAR:917494 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f65611c6-cade-48de-ad29-0bce8f7e77fc CLINVAR:917493 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2be5381-1afb-4af5-ab24-04c418991ce4 CLINVAR:917493 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58216178-b177-44a3-9b95-a04bc5b9c258 CLINVAR:225918 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f029fda4-a995-4216-bf67-b34fd6115408 CLINVAR:225918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73edd032-38db-402a-b9cd-3d7bc9f26777 CLINVAR:225915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1c90280-9c58-4dbd-b911-7b3f92710dff CLINVAR:225915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a7acc76-0f03-456c-9819-563d245daa34 CLINVAR:225914 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1d32eed-9546-4f0b-a253-640facbc57d7 CLINVAR:225914 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1fc56b6-0f5a-46da-b5bf-6d61bd71f495 CLINVAR:1478699 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0af0eae-0fc3-461b-8859-3d95364be411 CLINVAR:1478699 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ba8bec3-65ab-4719-9c06-a8cf68d61b02 CAID:CA392260686 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af8404c4-78a2-43cf-98b5-c2fc6e87352f CAID:CA392260686 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4250be25-5e53-432f-b5e9-b047d9cd5b4d CLINVAR:2446453 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe06bae8-577d-4a30-8442-c37bf577ded9 CLINVAR:2446453 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 821dbdd8-b510-48af-9477-f45be7fe94f3 CLINVAR:556882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae3aaf5c-f5ef-4a1b-9b9c-c8e37f1aa803 CLINVAR:556882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b8d92e5-c8f5-4cb7-98cc-b6cb64ed8351 CLINVAR:1487846 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1c1f312-275a-40c3-8d87-f4976cc016ef CLINVAR:1487846 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1acc1c0-635b-498a-b358-8b7706c6925a CAID:CA1139532474 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a543b4e-93ad-4fc2-b035-d3648810f5eb CAID:CA1139532474 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17875e5b-ebbd-4a78-b2e5-907f13006ebf CAID:CA269524632 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d62791f2-1459-4ee9-9528-5feb0043522e CAID:CA269524632 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1473c7d9-18bd-445f-bb7e-e624d74c19f3 CLINVAR:2429790 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c445a483-36bc-41b9-a689-d37792bdec2e CLINVAR:2429790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 843a7ffd-b86e-4f11-8342-4c5c618260ab CLINVAR:645957 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2e234d6-1187-4a85-9b9b-a42ca2cf01b2 CLINVAR:645957 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79985ed0-cf0e-48cd-8a54-e3d3fab72c55 CLINVAR:429154 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01925193-76d9-4a1d-b2c5-1781795d3c30 CLINVAR:429154 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfdabb12-6b48-4266-8ffb-b99226680a64 CLINVAR:644129 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07e9a30c-3b8b-4885-b59f-4344d78a8b93 CLINVAR:644129 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de628f6-0088-4fe3-ab60-58f57b775a6e CLINVAR:483408 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6eba229f-6516-456c-8350-d5af354dbdef CLINVAR:483408 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a1b82f-af77-4cbb-b163-faa1a9e33914 CLINVAR:825868 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4584bf13-7860-4055-bb54-476672ca28bc CLINVAR:825868 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ad734f-9b5f-4427-91f3-ce1b4911816e CLINVAR:375463 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af9bd9ac-38eb-40db-8107-34ad49f8b5b9 CLINVAR:375463 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98d5eeef-c00f-4044-ac9e-1a4614a2bc54 CLINVAR:866837 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0a125b9-5bff-4ef2-96f1-f6fcfd6b04d6 CLINVAR:866837 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2457303-ed2b-4db0-977e-0db30aee61bb CAID:CA913187307 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56fb3ca8-1c0d-40ed-bad1-65f10e3e01a4 CAID:CA913187307 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2663ea47-76b8-4321-8111-8a41fc62fabf CLINVAR:92289 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a415e6b-87bb-4e03-b940-9fb26e02d30b CLINVAR:92289 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d94290b4-9671-413f-b176-fabebe8177e7 CLINVAR:474878 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cca30c62-02a2-47c6-8435-d81472b5b054 CLINVAR:474878 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974b8265-978d-490d-9b79-b03ee492ebef CLINVAR:941106 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0fbd876-b192-4fbe-ba79-ca37acb04730 CLINVAR:941106 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b451493-963b-4313-8efd-2bd83f06cdf0 CLINVAR:932838 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 362774e0-88ee-4c6a-8d40-c1fc4c98f1ba CLINVAR:932838 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb70732-63a7-46af-91f6-48db8049b2ef CLINVAR:2429755 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b042ad24-94e9-4130-9f41-9f253ba89a58 CLINVAR:2429755 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33764e76-d1a4-4ca4-8138-8377f8e4240c CLINVAR:2442270 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee393f86-6afd-4bc7-bf31-8225076cbe2b CLINVAR:2442270 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ecaa167-4f8f-4394-b3c7-91df59e2fc43 CLINVAR:2442281 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e196266c-6f53-4786-ab86-320de886c402 CLINVAR:2442281 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c7359fd-e71c-4058-a398-65595f393094 CLINVAR:2442286 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb7fe574-988d-4aa9-8eba-be218dab7de0 CLINVAR:2442286 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 978641ac-5b10-46ee-a465-65e4d9cefc98 CLINVAR:2429759 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfcd2ff2-337a-49a2-99aa-c8dc4cd2d471 CLINVAR:2429759 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf5933d-3dc0-436e-a726-002e1d226e76 CLINVAR:2442287 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a651cfd3-c53c-416a-a321-8adec3b245cc CLINVAR:2442287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b1b4437-0e2a-42d2-9db1-c1b9f52f36f7 CLINVAR:2442288 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 690233da-fee0-4b34-a855-11b25bfb2a89 CLINVAR:2442288 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75cbcb7d-c26c-4be5-b819-55cde8f08b55 CLINVAR:2442290 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af3b3d63-b972-4254-98bc-c426142cecc2 CLINVAR:2442290 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e88e9f8-af4e-4ca7-8e89-0bc16748091f CLINVAR:2442263 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a800d73-6434-4cbc-994a-fb1f89920cbd CLINVAR:2442263 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2efda03b-d805-4e2b-9d06-2ab5ec7e7af5 CLINVAR:2442264 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8aab2136-08c3-4dfc-b354-c122db70d629 CLINVAR:2442264 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a241527-66c5-4aab-ac82-cd6a8d140a95 CLINVAR:2442265 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen faa64d2c-0117-4697-9873-fd753f442b67 CLINVAR:2442265 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d94378fc-99e7-4366-b567-984aef7ed578 CLINVAR:293716 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ad71473-911f-431e-b2fa-254bf5b23c5b CLINVAR:293716 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a55d48e-15a5-4ca0-bbe6-1a3ec2618ea1 CLINVAR:2429760 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d138f4d-9c97-448e-b10b-54e14f06d09a CLINVAR:2429760 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ac9df17-c702-479b-afcf-dcd2c509646a CLINVAR:2442266 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97ab63cf-0636-410c-8cf8-54b80a4bd3ac CLINVAR:2442266 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e7a5ed4-30d1-401d-9dd3-362d88bf85d9 CLINVAR:2442267 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 658f4af5-5b4d-4057-b6d1-3661086018d6 CLINVAR:2442267 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1114433-db48-47e3-a79d-b54bbe758529 CLINVAR:2442268 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b575b49-986f-41f2-a547-1116d4e290d9 CLINVAR:2442268 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1f1830-004b-49a4-ae70-506d2e120ade CLINVAR:2429761 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 458b460f-8d72-4c21-be7c-5fa1cfac12a5 CLINVAR:2429761 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea45a4a1-2b6e-4eec-91d1-a29d8e2ca4c2 CLINVAR:2442269 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0dbc114-051e-4928-872a-faa81ad0f4a2 CLINVAR:2442269 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d635928-07ac-49cf-896d-5c07af261fb6 CLINVAR:2442271 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a56561e-d413-40e7-8c76-d5d06e110fa8 CLINVAR:2442271 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cfc64f6-eb57-4839-b780-07d2cd7fe716 CLINVAR:2442272 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 050fd815-4ed3-49b4-8ce4-8b0265ae18e2 CLINVAR:2442272 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebb34256-7da3-46fe-ae05-47d15574c7ff CLINVAR:2442273 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e5ca10c-1264-4385-bfd1-2b05268720a0 CLINVAR:2442273 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae5fdd5c-ea54-4deb-81e6-e0bb3f99d62d CLINVAR:2442274 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 863a5fdd-8160-4514-9994-568a38c34378 CLINVAR:2442274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e81d3f9-2d24-406b-9095-7bdc8554b010 CLINVAR:2442275 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18a7e8a6-7305-41f2-b372-51529838a54b CLINVAR:2442275 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4ba0e71-5117-49f9-aeca-2e334ae164f3 CLINVAR:2442276 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce795b7d-3a93-4111-91a3-853bf6c06bcf CLINVAR:2442276 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1042ee94-a6c3-45ba-9c93-9ca9ad29a7fc CLINVAR:2429762 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f17e1341-8782-4806-bd1f-65856e466686 CLINVAR:2429762 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91c4810-5c0e-44b2-add5-97ae480ac3ca CLINVAR:2442277 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 461293c3-1df7-463e-a8f6-71b9ed893335 CLINVAR:2442277 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b15c56-fd0d-4740-83bb-e6bbdf9e09f0 CLINVAR:2442278 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b923db71-3bff-4d59-848c-ce5f019950d9 CLINVAR:2442278 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e09a2ab7-120e-426a-aa75-e56ce4784d26 CLINVAR:2442279 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5895ded2-39a7-4eef-853c-e02e2b967f45 CLINVAR:2442279 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fedabeaa-a194-442d-b3c0-f1b8fda6c964 CLINVAR:2429764 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c77f2290-3de7-4153-b722-dbae07ebe759 CLINVAR:2429764 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78e857e1-0968-461f-858a-c955e1b11c1d CLINVAR:2429765 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 291101db-f55c-4a76-8580-bb1126df7195 CLINVAR:2429765 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8a78762-2202-4131-8296-473b258e2330 CLINVAR:2442280 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ab04893-40b3-43db-a5d9-976084fbe35c CLINVAR:2442280 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53aa7200-5bb8-4c93-87a8-c3d9e93d1d71 CLINVAR:2442282 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d89c0719-a29c-4f35-96b6-b8f0db66deca CLINVAR:2442282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dc7b6ea-9815-4af7-9ba2-d753407618b1 CLINVAR:1439558 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd3a63e0-bc7c-4af7-9d26-038b3e70e6c0 CLINVAR:1439558 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e59d7dd7-635f-484d-bfca-8e35217ecb67 CLINVAR:2442283 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be4c3452-07fc-4751-afb9-781f5fd3dc1d CLINVAR:2442283 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f297097b-145c-4030-b8cb-5dde8633dfe6 CLINVAR:2442284 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2681bb94-989c-4bb5-b503-a57fdda09761 CLINVAR:2442284 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79a3afb9-8a49-49ee-a308-c2b7942ddf99 CLINVAR:2429756 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb25d8d8-2398-4f34-a886-8839dbfe1f8a CLINVAR:2429756 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e343a945-2fd6-4213-882f-adf3fb97dce6 CLINVAR:2429757 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a32a413-2af0-4f13-a534-e181110bfae3 CLINVAR:2429757 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9bb53fd-53e8-4da9-bd37-52b2db66dd47 CAID:CA8603502 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42a822ba-45c9-402e-a0ff-91a0be79b6fc CAID:CA8603502 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 939d1445-c9d5-4f1c-a3fc-5c41ecf918fc CLINVAR:2498355 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9413e0a4-e869-4b89-9609-e51286dba998 CLINVAR:2498355 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7207579b-dcee-4a41-889f-427dee7e7ef6 CAID:CA915940796 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a907aaaf-4f0b-47ee-b24a-60fb75300d35 CAID:CA915940796 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6148587b-b787-443c-9d90-8eba251fa1a6 CAID:CA400033003 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b92caa9-a8f9-49d5-8873-00525a8d3e3b CAID:CA400033003 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a393142-93c8-464f-b2aa-a3954b5de961 CLINVAR:890710 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24811907-ee80-4ea6-8356-a6af9b3f33b4 CLINVAR:890710 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9677ddb7-d282-4ad3-b6d1-4146aee6a4b5 CLINVAR:890713 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a3b1828-8403-44c5-9f5a-ed92657ca778 CLINVAR:890713 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c120e328-b112-43a7-b3c4-6fec61a492e7 CAID:CA8622991 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94510c9f-0a16-4f15-b31f-d06045f9c2ed CAID:CA8622991 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8bdea49-4ed4-42b1-bba2-b06a6b284f68 CLINVAR:2498348 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00c0e75f-bd59-4354-abad-942ec29586a9 CLINVAR:2498348 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a68ce162-c88a-4051-89e2-c65d43e9a0c5 CAID:CA399790399 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17923e78-f2e9-4d92-96f5-2e397e412b4d CAID:CA399790399 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff71644-d8d6-4de9-b0de-ae848d393eb3 CAID:CA400029436 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2212d258-f872-4686-b220-9fec2d720a44 CAID:CA400029436 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e51ef1ec-d929-4eeb-83aa-d30a5a46ad22 CLINVAR:2498351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffd5dfc5-7d08-4733-b4b6-b17c323f6400 CLINVAR:2498351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b231d01-7497-4e68-98fe-35ac327304e1 CLINVAR:9628 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa3a4738-bf0c-4e50-8f6f-59b3f4f7e8a1 CLINVAR:9628 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70299cf0-3262-4c16-8cec-b39322980e9f CAID:CA915940266 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 429bd4c9-7c24-4555-8d1a-0b73357279e7 CAID:CA915940266 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96b6c3c7-07fa-4c21-9b72-83dcdb9807db CAID:CA915940809 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd76e80b-4f21-4ea4-a146-dd463eda0f59 CAID:CA915940809 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 127ba3bd-c1a3-4eb8-a327-e12cfcdbff61 CLINVAR:892353 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ee9170b-5dbd-41ab-9305-ec5eb6d92fe9 CLINVAR:892353 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd262d4b-e87a-4d2d-a41d-41be3d1cbf3c CAID:CA399805912 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7576f08-afcd-4810-a0e0-a51e107f959f CAID:CA399805912 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37399769-eef0-42b8-ac1a-e8aa25bc1091 CLINVAR:2498356 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51c542e2-4787-4452-8b36-a1e552109743 CLINVAR:2498356 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37d3dfba-e814-418c-85e2-c2a42a08f920 CLINVAR:143603 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2a948c9-3953-4ec5-a34c-015ed10521df CLINVAR:143603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fcce1f5-dccd-40a4-b685-c51939ebe068 CLINVAR:324982 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16599032-58bc-4fa9-8f4e-19566685303b CLINVAR:324982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e0b3415-c7f5-4691-b080-ad7a98fd6542 CLINVAR:371464 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85cd821f-263c-4aa8-bdbf-05d02976602f CLINVAR:371464 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ca672ee-516f-489e-a946-90d9a886c50a CLINVAR:1676595 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b62594b-938a-4874-bd7b-a5f0408f76a6 CLINVAR:1676595 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e03b1058-84dc-4c72-83e1-25fd83b57bf2 CLINVAR:825824 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4cf064a-07b7-4d79-a668-ecd1d5c33c3e CLINVAR:825824 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c73f94fe-134c-4e22-87df-ed12568cc58c CLINVAR:543574 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2072f82-7a7d-4880-b533-d28f2fafc4c4 CLINVAR:543574 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 976271fa-59f7-43bc-991f-546369f38566 CLINVAR:570456 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f835db52-61cb-4831-8048-af9bfb63b686 CLINVAR:570456 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8fdb05e-cdeb-4cd4-a231-5ae715202c52 CLINVAR:1687567 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 621a1d53-a110-4f17-9831-662c76e2e52c CLINVAR:1687567 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6acb274d-5851-451a-ab23-5c57dd790f01 CLINVAR:648917 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50eb4d1e-c2b6-4f70-bc81-c9206bef9847 CLINVAR:648917 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f43d0a5-d1d7-46d4-ba1b-47719bd4df76 CLINVAR:1067574 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca3dcbd1-c482-4ee0-8f8e-c4d6dc790bbb CLINVAR:1067574 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8aa5f70-2f09-4797-92be-9470964bf662 CLINVAR:972790 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c787cfdf-6aaa-433c-8577-d8fe6b7b815d CLINVAR:972790 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d33100f-5708-4da1-8256-c80bb658c94f CLINVAR:982297 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9ca45d9-6dd7-4941-89c6-ca3eac6b260c CLINVAR:982297 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a140066-f14d-433e-af02-78ad2fdd02fa CLINVAR:1037598 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d60bb10-0f56-4794-b5cd-72b649dee937 CLINVAR:1037598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24d146c0-46c8-4e47-93e3-9c737f9b4171 CLINVAR:92465 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49c391d6-cd58-4b24-812c-62f4c83e1d97 CLINVAR:92465 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eeae583-f6b7-4ce9-b391-5024f062af31 CAID:CA913184761 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7f939df-7484-440b-9377-ccaa53c4b7af CAID:CA913184761 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae155d64-762e-409b-88e0-b86dc17ab6c6 CLINVAR:1353052 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4111ed8-b8c4-41e0-b638-2f3d2da405a3 CLINVAR:1353052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 627e8bc6-6dd2-4aa8-93f7-161b219c2ccc CLINVAR:11699 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bef86502-736f-4319-819f-3fe5d291189a CLINVAR:11699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5993c891-09e2-4729-834d-2f3994fc2583 CLINVAR:520792 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4eee440-020a-4f53-baf3-ff7b6a760ed4 CLINVAR:520792 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bba2456-e7f5-4736-b22d-95e35ac080c7 CLINVAR:430374 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 421444a9-5ac2-4fdb-bdbc-3248b239a4a7 CLINVAR:430374 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07167792-48c3-48bf-aae8-4ecaa9feb95c CLINVAR:844968 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38f107c4-4a0d-4b26-b6b5-f36db0fc1777 CLINVAR:844968 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4a8f83-0614-4db5-b1e5-3112b51a4fef CLINVAR:916122 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98520841-c183-48c5-93be-efae09a4cf2e CLINVAR:916122 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bb73d48-c587-4977-afcc-4f2eccb3c312 CLINVAR:849693 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a96f32b-6af5-4257-94b8-4b9a5e54d6a9 CLINVAR:849693 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d2e4586-90ee-4be1-a190-e6641d7b9ba9 CLINVAR:939992 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 470891ca-7871-44c6-b79f-59cad5b584a5 CLINVAR:939992 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7d47de3-a868-4911-9263-a10902d24d68 CLINVAR:2446451 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 430adc9b-502b-4627-a342-2d6c053067a0 CLINVAR:2446451 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2c6615b-ae01-4583-8ab8-ef5c4b0ad890 CAID:CA415084325 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 773fb2d3-e09c-4900-8b78-9ec0b2e91a87 CAID:CA415084325 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a1ade9-71d1-4cf9-b315-5d7609a500cc CLINVAR:1211026 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44b8454f-3ba4-4878-b5bc-30748f5f8aa1 CLINVAR:1211026 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae56fa37-48b2-4b48-af8f-23266035da6d CAID:CA415079466 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbeeebd9-ddca-4211-8bed-5a89df7080c2 CAID:CA415079466 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e6518cb-bc4c-4dec-9fb3-b1161bea3344 CAID:CA2573334474 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09434f43-4ce3-4cd3-8b46-7c6f41c56f0d CAID:CA2573334474 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c666a30b-7a25-48f6-a84b-ab01b320a4d0 CLINVAR:2446447 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 173ec730-bfbd-4185-852c-f4c048d59641 CLINVAR:2446447 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f08b0885-7bbe-4754-9dbd-68c83a13e245 CAID:CA2573334479 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fc7b404-2118-4042-8dfd-cbb0ae96f5ef CAID:CA2573334479 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 212ca3de-779f-4a63-b021-c8c58c6a5be2 CLINVAR:392462 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46e21ae9-b155-44a9-94cb-3a6842a37c2e CLINVAR:392462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24634486-4749-4226-bf73-c650bce8a02e CLINVAR:689840 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f93e498f-a28b-4c85-897d-f98548f21c09 CLINVAR:689840 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b74dfe2d-3512-443c-963e-5e60c5de9dc5 CLINVAR:9573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80399aff-eff0-4713-bd1a-b8325085c6cc CLINVAR:9573 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e882eb5a-4dec-48d4-8d21-f86b701423fa CLINVAR:689856 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c0cb205-65c6-45fe-bc8c-43a7100fc95f CLINVAR:689856 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b701ec7-b8cc-4471-8482-98fed7a2ebda CLINVAR:9683 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62ed27a5-a945-4cd5-82c1-d2fc6228c4d2 CLINVAR:9683 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b035f16-6eff-428d-b313-8a8321497345 CLINVAR:628229 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4361733c-81c4-4b79-9278-b7a0e35ba2a1 CLINVAR:628229 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b66b2b00-c658-4d0a-9e6d-79202dc60d30 CLINVAR:824698 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0617754d-33b2-4247-a53c-a4d0cf3ebe11 CLINVAR:824698 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3abb45a-419a-4843-bef0-12d621a2addb CLINVAR:217982 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad9eed8a-625b-42bb-a9f1-6b433ffb55b8 CLINVAR:217982 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a52dd2e-57f7-4d4e-9092-d00384677332 CLINVAR:804 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3665f1b6-e13e-45c5-af64-9dd032a6f8db CLINVAR:804 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865261b5-3558-4330-b9d4-41f455d62ef8 CLINVAR:411469 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a9b3b46-e1d7-42a5-8e7e-ce48c0be26ee CLINVAR:411469 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfa35b3d-1e2f-49f6-bee8-56a1d7d796ff CLINVAR:218000 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de62aa67-cbea-4610-9008-790f71a7c276 CLINVAR:218000 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd41614c-6a5b-4b45-81b6-28b26c32a8b4 CLINVAR:827113 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dadd5b6e-b91c-4404-8605-05f51bf2fc33 CLINVAR:827113 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97dfd21e-b495-4057-8bcd-81d239704977 CLINVAR:418007 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b63051e5-bbb5-49c1-82f2-8b7856a28b4e CLINVAR:418007 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b013ce75-13e2-493c-9e55-dcb296097bf9 CLINVAR:184999 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 154083ef-27f8-40be-8139-e1cb319cdd32 CLINVAR:184999 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519eeab3-c175-4f5a-8dd0-e9a682190639 CLINVAR:822187 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c04cf9d-f816-46e1-80b7-fb6926e7c02f CLINVAR:822187 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2748c9e1-a87b-4647-8e6f-00a185cb8e28 CLINVAR:438864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d4f7333-1522-4eeb-ae0a-e22cdca8a7c9 CLINVAR:438864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65b90754-f5a1-46cd-ac99-3922fb2727ca CLINVAR:826 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b57020f-8ff0-4475-a580-66c536ebdcfe CLINVAR:826 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2288d9a-48ec-4ff1-91e7-3d4989f79419 CLINVAR:230944 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da397dae-4048-4392-bf9a-2aa7f9d05d80 CLINVAR:230944 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7484ad44-bcef-4747-a32b-296ec6f4b36a CLINVAR:411555 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9ce819e-0ee1-4c6f-b61b-95e4dc2d6646 CLINVAR:411555 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b393f66-0418-421a-8291-47298b229a3b CLINVAR:649594 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 759620d0-7620-4c5f-b96a-af4c6538fd8b CLINVAR:649594 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 567ec656-5eee-4fa4-a0e5-99e03bb22896 CLINVAR:490221 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 756cd9a0-951a-4e50-aba4-09d8ed68b019 CLINVAR:490221 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b983a01-4add-4a17-abdc-b50a9f7574c0 CAID:CA658760617 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f39c9899-6611-4266-85bd-c70350d5903a CAID:CA658760617 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6f166ae-a61d-42d1-af0f-42c1fa19162b CLINVAR:419202 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d379b90a-33b4-44b2-9a4a-58dceb058a45 CLINVAR:419202 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba2f6e5-e05e-4a7e-878a-8d8ba773506d CLINVAR:428167 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3388a9dc-5ecd-44ac-9899-b4c6743fe72b CLINVAR:428167 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6ed7bed-4ad8-4522-a115-cf2ed2cf75d5 CLINVAR:1393312 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 770c2422-0c3e-4c47-af0a-7bd0e7eb7ddc CLINVAR:1393312 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e7b520a-8b40-4a02-b140-c985a8f89c31 CLINVAR:428186 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd6d423f-77e2-40ba-9f65-b96c73b8c846 CLINVAR:428186 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76986a97-10a1-4b8e-b506-fd51400fa5d0 CLINVAR:469904 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0ec396d-e3bc-42ed-98f7-a08465ef54ba CLINVAR:469904 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cf8965a-d436-4701-8335-dc8075833a1c CLINVAR:233215 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9430ec1a-de88-404a-8604-eccdc30cf245 CLINVAR:233215 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a9d5d24-a1ca-4036-b1e0-26bc0c38d63a CLINVAR:862543 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad094e93-1c74-41d8-b24f-8c09c9c3084b CLINVAR:862543 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda5289d-9d77-4546-a446-bed362cf8584 CLINVAR:816 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6aee3b98-67e0-40b7-9a23-692470ca58e1 CLINVAR:816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b0c3179-33a2-4e7b-b575-baf0f0afca32 CLINVAR:140839 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffcc2044-710b-4374-8e07-26893b389552 CLINVAR:140839 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20241ade-1211-4659-b05b-1b00839918e9 CLINVAR:486786 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a02c46b-f2b6-4f6e-ba17-f1daba0c5485 CLINVAR:486786 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d5c73f2-5332-41c9-b806-3d218635cf17 CLINVAR:411472 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1eca5cd-cc85-4d8c-82ec-9e488622080e CLINVAR:411472 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 520aeaeb-2549-40f2-83c2-ba80b44bf950 CLINVAR:371858 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d7b1506-8b11-45e5-a740-e08db2791b1f CLINVAR:371858 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d0c1d70-069c-44c3-ae4b-fa0502114f4b CLINVAR:486740 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 674112bd-11d4-4f87-9977-dc616cff0cbc CLINVAR:486740 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 414bc024-bbfc-43ed-b70c-cf3496ce4a5f CLINVAR:950642 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d2accab-bc8c-4a27-9452-433653c13573 CLINVAR:950642 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a1aad9-3ac9-4e83-a581-f33b039f5c29 CLINVAR:537703 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4f7e202-e97c-42ec-a811-e678cf20b041 CLINVAR:537703 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7548a50-de94-4cf2-b3d0-46b3dd4d4cce CLINVAR:429040 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e05495cd-e131-4371-b96a-7e411427f47d CLINVAR:429040 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39c69db5-1816-439b-9e26-277c82e67251 CLINVAR:642643 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc7f49fa-0700-4d96-a31d-31fd06b8fc1b CLINVAR:642643 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 489a708c-88a9-416f-b01d-4f253495b3ae CLINVAR:9618 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bae7110-2e3e-4786-bcd7-9303dc15235f CLINVAR:9618 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3647b6af-68ef-41c5-bec6-c8f3ed4d2c62 CLINVAR:9610 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5a003bd-883e-4cda-a06c-735c864fb644 CLINVAR:9610 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b9925ca-6721-457a-b4dd-da344553cddc CLINVAR:9580 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc9dc197-3d10-42bb-ba8c-ad83dbddd564 CLINVAR:9580 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf4acf4-b8f3-4c2b-b967-9bc4c0817f5a CLINVAR:986496 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b800cc2-56be-4c50-8cde-f5365d557415 CLINVAR:986496 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e42d1aa-0d4b-41f9-934b-5771e0bb4aca CLINVAR:9616 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c80e0fe-c057-42b4-863a-cf2b44b02b89 CLINVAR:9616 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a07a0347-80cd-4709-b514-be9b21c2af02 CLINVAR:9617 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69ddf0a7-6ab2-4f1a-b12f-4a3a676d6808 CLINVAR:9617 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 636cdf1e-05a0-49ce-ab94-d7deeb81cc49 CLINVAR:102628 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c53644bc-32c8-4499-8fdc-cc305b52318e CLINVAR:102628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53fd291-7ae5-44fa-81ae-297d3c14c8e8 CLINVAR:1460083 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 365dab48-fa60-4626-999f-539f259f35aa CLINVAR:1460083 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f10514c-6eaa-49f7-9337-fff38661d317 CAID:CA16020827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c796a196-3ef1-46e9-b410-bdab565eca83 CAID:CA16020827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d139f3b-3487-4a82-a94a-e5f4f40167a4 CLINVAR:986440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee54d186-64ed-44ee-8f53-add773b045f3 CLINVAR:986440 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f390dc-3d64-40b6-b0ac-e876f8c3d6d9 CAID:CA386304171 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67f90471-bc0b-47b2-82b9-9188851167ca CAID:CA386304171 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cef425-91db-4cb3-b575-5fc5a4924b15 CLINVAR:102746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b7d7a0e-e64a-403f-a26f-4673ab1856e8 CLINVAR:102746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d03b3dde-017e-43a3-bf85-9e9f02860351 CLINVAR:576828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 780a3c4a-f36a-47ce-8bd3-87d511ff7783 CLINVAR:576828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f18e48a2-49f2-4b77-93d4-483eea4a793a CLINVAR:2573215 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13a37ec5-a3d8-47f0-9641-9d063a57378a CLINVAR:2573215 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23254294-807f-424c-acdb-80be9092c5cc CLINVAR:557365 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e5643df-ac6b-45b4-af3a-cec77fef3536 CLINVAR:557365 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dff4e9f-d2ce-4257-97e0-92f21e576c9e CLINVAR:595611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b48bb54-1a10-43c8-9948-4fcecad386ef CLINVAR:595611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e985b7c-a667-467d-87be-348bd263e3cb CLINVAR:102625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9e948d7-d404-4796-b839-207f881f3645 CLINVAR:102625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b5ebc5-c13c-446a-8cba-f4b550ea063d CLINVAR:9565 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ee2b6ed-6892-4396-ae8e-202d4465fd04 CLINVAR:9565 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb2d96c-4c80-48b5-8b0b-f784c1f82f4b CLINVAR:9581 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0e1534b-d58b-47e9-91ee-5aff6da85487 CLINVAR:9581 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ab2fab-3e9f-4c7a-8a65-6642d3adb9ef CLINVAR:2498357 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86d54f66-12de-46b5-b82e-d6adea947963 CLINVAR:2498357 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e24dfd4-2dca-40d2-b726-0a1e6c12ef42 CLINVAR:2498358 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93380ac6-963b-4d2f-a430-2ed57eb5ac4e CLINVAR:2498358 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d912fbe-5472-46ed-88d5-0942c9bb4051 CLINVAR:2498360 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17affa8a-f9ec-42d8-b98e-640c48043a5f CLINVAR:2498360 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0cc6ab-ebd1-4658-8950-e1baff27bfe8 CLINVAR:2498361 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13533397-344f-46da-b046-dfa76240a504 CLINVAR:2498361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a21c1cc-a6d1-4f6f-b3b0-e11dfbbb0a42 CAID:CA915940807 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36161110-ff34-4927-a66a-702c3e99fc3b CAID:CA915940807 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2eb32d1-313c-49cc-9b23-df22eed6a119 CLINVAR:2498363 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen faf97753-267d-4e1b-9197-58bfccf91de3 CLINVAR:2498363 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a59931a-70bb-42f2-adc2-081ad8db58a8 CLINVAR:627094 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4002789-00ba-4546-be7b-13914f708c45 CLINVAR:627094 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bbbc474-eb00-4b64-8f6c-cbe4832a9c63 CLINVAR:634433 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef17a80d-cc0e-433e-ba4e-45cfa4280491 CLINVAR:634433 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8825a8e8-3057-4c57-9a0d-010edb38dc25 CAID:CA16020822 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a3cff87-ef50-4c69-8d80-b57ec3c0d9d7 CAID:CA16020822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97823683-9773-4b50-83ab-3f443ffd4776 CAID:CA409106289 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 752fe44b-d423-429d-a280-5d0e0f297262 CAID:CA409106289 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8428af30-03d4-40ad-83f0-fc58b6afc1b3 CAID:CA409105438 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c38ce5ac-f04e-4d7f-86cb-ec6a2ff351e1 CAID:CA409105438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b50fc78-b67c-493f-9ed5-a2a54adebe10 CAID:CA409104278 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b920d07b-5ce4-45e3-8ff7-264a171a6dcf CAID:CA409104278 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9630c0a-ab1c-4853-be5c-4b29cbd8a199 CLINVAR:660424 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dce5d924-1254-4500-8f8f-287efede62fb CLINVAR:660424 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62fbd8ee-cc80-4f28-a89d-d7cc11d04691 CLINVAR:932842 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92d7fe9f-77b8-4359-8b30-7424fb519c06 CLINVAR:932842 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf171de-f5d3-4142-8e1a-4ffc3b609e07 CLINVAR:932852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a19b4bc0-0a77-4118-94e2-07e402a02f99 CLINVAR:932852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb28ba9-a148-4978-a5aa-3f711cd07f5e CLINVAR:932834 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a99458e0-e6b5-4bbb-ae36-4698de42321d CLINVAR:932834 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 408fae7a-b30f-46fe-b529-6f2a27a1ab3c CLINVAR:932176 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34437723-1bd1-40c4-954d-e3640947d42f CLINVAR:932176 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c342eb8-06e9-403d-a4ca-00f69319cd58 CLINVAR:373427 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f235c4c-f180-4ac1-9737-839ff3bb8a6e CLINVAR:373427 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92394db7-ace3-4595-96be-3884ab24b64c CAID:CA1139533037 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84aa37f0-f769-4ef0-a2fc-23ef2dd1b158 CAID:CA1139533037 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c1f3483-e3f9-4920-bd9d-9e6df6e53c93 CLINVAR:618219 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60d42ca9-6e7b-4096-a544-72b503f676d5 CLINVAR:618219 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c351d734-5105-4cbc-b8eb-11c400b158b8 CLINVAR:618216 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23d53f82-e6ae-4ce1-89e9-8aa519a334b6 CLINVAR:618216 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1302d52-4222-4eed-8a4d-7d75efbe91a4 CLINVAR:65513 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af774ae9-d9db-4e90-ae8f-4d129cece39d CLINVAR:65513 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f2b3f97-98e9-4096-8116-bbf31fcc0df0 CLINVAR:9694 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6b618a8-785e-4a05-aebf-c449599a9cd7 CLINVAR:9694 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4bb8b99-76a8-4a91-ad75-a18c8ba25be5 CLINVAR:544251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 344f8579-08b7-4d93-92ea-93b7cfdbe567 CLINVAR:544251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b7161d5-e91d-4b85-bcd7-17af122c1f21 CLINVAR:1402763 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de698b7e-5881-4e01-a1c2-734f3b93ecdd CLINVAR:1402763 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8436b221-44f4-4ec3-af48-8f91f8436798 CLINVAR:8305 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 584bea63-e60e-4590-a8b5-eeb38b56992b CLINVAR:8305 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d46ef4b1-8a7d-4e7b-8139-a669fff2d384 CLINVAR:2446454 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbb52971-5c2c-46c7-9274-8aa3f7a3a744 CLINVAR:2446454 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ddd8d44-8125-4bf6-9a43-5202540e5303 CLINVAR:2446455 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b59dac4a-46d2-47f7-aad9-03a679f42b63 CLINVAR:2446455 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b395c3d2-3eea-44dd-861b-b98174d8d704 CLINVAR:2446456 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67908666-8727-4d81-8aa4-e3975b4dbd2a CLINVAR:2446456 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ce37758-1114-4c90-a1c3-ca2654f46385 CLINVAR:2446457 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9911600-ce9e-46a7-94d7-6827c512c305 CLINVAR:2446457 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e4f8e1f-1901-4d54-a9d0-ea29b58b5a4d CLINVAR:2446458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf544c28-772e-4f82-86a8-5e1afb05f97f CLINVAR:2446458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 623a09d5-492d-4e55-bd7f-1b76cb893577 CLINVAR:2446459 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d39625a9-8f7a-49b7-a435-33e56468e445 CLINVAR:2446459 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54031be9-0686-4b0a-a994-4b79bc296014 CLINVAR:2446460 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e94bda09-975e-4156-886e-c5a3cf52cbfb CLINVAR:2446460 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 977a4abe-5017-4659-ac1f-a1494c471dc9 CLINVAR:1335317 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 111d8b3c-978e-4c2c-b1aa-f809c8a39736 CLINVAR:1335317 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 416d37a1-e801-4d22-af44-301e5bac5735 CLINVAR:1409758 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98a0046f-1b71-4dde-9900-84e6b16155db CLINVAR:1409758 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27217974-7529-46d0-a60c-e6c10c2c4d5d CLINVAR:1328978 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c462d48-f028-49e4-b66d-0232b6078d30 CLINVAR:1328978 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54cf1fbf-b2d8-4478-9d8b-6be31a91d959 CLINVAR:9583 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49beb3a1-5a80-42eb-893e-a8d2eb6d6d69 CLINVAR:9583 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ef450f-4120-40f9-bcfe-b1e745aeedc4 CLINVAR:9622 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fa31522-09ed-4df5-ae01-df8410d9f046 CLINVAR:9622 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a18f5bf-cd89-447d-a3bf-ec05c5743edd CLINVAR:9620 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4b24862-7419-4de8-b5d3-1864c970e784 CLINVAR:9620 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75dbb386-3e08-4da1-a2ee-790cd31f69a1 CLINVAR:986477 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc496393-913c-4d29-8868-183e98540744 CLINVAR:986477 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 051db900-8d12-4c6b-9821-d192c51e5a4b CLINVAR:9592 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0de3676-d678-45e6-964b-760ebab7c7b6 CLINVAR:9592 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 147f0f07-6827-4c0d-a81e-c813b12f4d88 CLINVAR:393097 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d795137-610b-453b-916b-b1d642ca8f21 CLINVAR:393097 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85a314eb-fab7-4a3f-b394-5f151eec8357 CLINVAR:440665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdf842c1-e590-440c-9d01-a09fdddc2492 CLINVAR:440665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e53e04ad-c54e-4079-9845-a87ceab39901 CLINVAR:251094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ce2d9c9-1e35-490b-873a-c02e395217b4 CLINVAR:251094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f46dca-3338-4bc0-9dfd-20e64277b5fc CLINVAR:251095 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5ac2330-1091-4789-b274-c534dde81f3a CLINVAR:251095 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cff01ece-1d1a-43a8-a439-2185ff57c283 CLINVAR:226310 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4123b4d-c1ec-4bf6-a0a4-f45b1cfc994b CLINVAR:226310 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf48c5b-9a63-4cc6-9aac-a047392d8894 CLINVAR:440592 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08c22926-680d-4978-bd66-c40043c30918 CLINVAR:440592 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e5eba7c-5a0a-4ce4-9ebc-0ef3216d1097 CLINVAR:189298 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4b2ed5c-de94-4290-9d71-da4376acdf8a CLINVAR:189298 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a2e45e-82c7-490d-a895-8a44e9851a43 CLINVAR:251805 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 599bb35d-ac76-4b30-a7db-1eba6bdad64b CLINVAR:251805 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aafe13b-2fb1-451f-8901-d66bffcfe6e7 CLINVAR:183128 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2478988a-7f9b-430f-a1ff-cfed8e90b7b5 CLINVAR:183128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bca817e9-9b8e-4da5-9202-dfc59070504e CLINVAR:252127 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0199f1b-f188-48c6-bb8a-2fc924deb4dd CLINVAR:252127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c456f784-2a14-4644-bdf3-430708e0a5b6 CLINVAR:252128 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b626120-2710-44d6-8830-81db23182ac6 CLINVAR:252128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05e55033-d1ee-4e6c-b246-a9c66b8b1e36 CLINVAR:251727 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9277548d-f345-479d-bb41-0d3ad5ebffb1 CLINVAR:251727 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07708673-4cf0-4b63-a7d0-d4254f8a9926 CLINVAR:252306 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a661a60a-4c82-4c7b-b340-950bdb4d515e CLINVAR:252306 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb6a8ba6-5c1e-42f5-ae88-28d4a8c61a82 CLINVAR:252340 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f1fbcfd-04b4-49ee-930f-996dfc801157 CLINVAR:252340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237c3de8-7d0f-4ca6-a770-458f99fa0eda CLINVAR:252341 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa8adce0-9e1d-476f-b7a8-ab277de63f83 CLINVAR:252341 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af80b9f1-b8ce-466f-93ef-a842f8ce2100 CLINVAR:161265 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b14786e0-dbed-45cc-b2b4-fca8a6ee4915 CLINVAR:161265 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5110eb73-31ca-4138-a7cd-a60449bc5f17 CLINVAR:440701 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c87a5a09-33c7-4dba-8d6a-4ef5e9e0c7ee CLINVAR:440701 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84e219fa-9b75-4c44-934b-a2fd6638eb50 CLINVAR:252141 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ac77f9b-8aec-43fc-969c-6ceabb5b59e6 CLINVAR:252141 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9da5f9-a441-47e7-9baf-da91f41b02d9 CLINVAR:430757 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29571a97-6f06-4a91-a960-5f8a9472b1c1 CLINVAR:430757 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62761a4c-e10a-4626-9e07-86a906ad0a2d CLINVAR:250942 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dd72659-1551-4274-b104-9096ecedd47f CLINVAR:250942 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7613645-099f-4327-a6dc-eafa8c6b06e8 CLINVAR:440600 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c6eb3f4-8292-4961-b906-fd1f17ee9682 CLINVAR:440600 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf7cacd2-fbc8-4b7d-b5a7-f60773bd52f3 CLINVAR:431538 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d80e9134-8fa2-442c-98fb-8547ee364385 CLINVAR:431538 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc2e151-5900-4336-b1ef-fbc337c04ad6 CLINVAR:440670 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 974fc1c9-9e9b-41e1-8a54-0a4a7f69759e CLINVAR:440670 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d35536c-3ee5-42c0-834b-880bff60dbc1 CLINVAR:251489 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1850f4f6-bb9e-420e-8f4a-b11dd59ecd7b CLINVAR:251489 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba02fce3-e555-4b6a-bebc-6ba360378c49 CLINVAR:375809 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3ab8c82-ebcc-4143-8175-964ea81f0164 CLINVAR:375809 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38116b94-82c2-47e4-a75f-7e767778a393 CLINVAR:251606 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fea53200-4062-474c-85a3-84597aca943c CLINVAR:251606 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17bcebc0-10f2-4f7e-92b3-16f8e22dfc0d CAID:CA386493486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 623abedf-b084-4632-ba31-03bfa79050cc CAID:CA386493486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1af84e7f-15cd-4a0c-bd03-f1437e0ffd04 CLINVAR:102810 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 882437a9-ba99-4b07-8778-1323aba32142 CLINVAR:102810 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41ef9627-3086-4213-a97a-637c2fc5f2b8 CLINVAR:9563 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a2a8e11-5099-4fb6-9a7a-996b28106b77 CLINVAR:9563 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b909b3c8-e712-4818-9978-8c512ffda17e CLINVAR:9688 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a4857ea-c474-4ad0-a9b2-e798f62b3c60 CLINVAR:9688 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a889fc6-408c-48c9-802d-b93147748d84 CLINVAR:9570 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1fadcbb-8f02-4c27-bb9f-749445e5e435 CLINVAR:9570 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2af9994-266e-4f36-bf96-bd9d3dbd3fe6 CLINVAR:9560 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed82ac88-a2d1-4c2e-9f50-ae7bb448319a CLINVAR:9560 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3132c79-8c70-45c7-bcfa-d9043eccb254 CLINVAR:2498105 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ce5d56b-6c23-4ab0-bd82-b72ea6edc1c2 CLINVAR:2498105 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9987e8aa-e8cd-444d-a06e-50d58d7f20d9 CLINVAR:2498110 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05fb3462-309e-42f8-ab3b-e7cae7b057d1 CLINVAR:2498110 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d657da51-57a1-4456-97d2-81f6f93b57c1 CLINVAR:2498112 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87bb5d8e-b643-48b4-8b25-829ea3a1750b CLINVAR:2498112 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89050a90-d650-4ebf-9537-0268a7b84fd3 CLINVAR:2498113 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e91b4988-35ee-491b-9eee-38d62b6b12b1 CLINVAR:2498113 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eacca2d-a59a-4264-ad87-a45a7046c62d CLINVAR:2498114 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c39b9fcd-9748-4631-95e2-071c9b2fc304 CLINVAR:2498114 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a352474-12d2-4361-ac8a-3d92f15ae45c CLINVAR:1698837 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ffe83d6-780d-49f5-aeab-254a3990698c CLINVAR:1698837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64515623-c1bc-4b83-ae91-079eda95847c CLINVAR:2498115 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6db1f796-b8fe-4db4-97ea-5028159f6cc8 CLINVAR:2498115 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5bf9048-33f4-41b7-a124-4a3f3f46fa6e CLINVAR:2498116 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42aa321f-e1a8-4ec7-b5fe-f7fb9915a085 CLINVAR:2498116 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0011a09a-f470-4ba0-a090-cbd1f4cf4c98 CLINVAR:2498106 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf15bd2c-a0d9-43b2-af5b-446abe5e63b0 CLINVAR:2498106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ab2903-6f4e-474f-b606-88bd03f08520 CLINVAR:2498107 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b05ce67-9b2d-4b8c-beef-77535910f613 CLINVAR:2498107 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3181d4e7-27fc-468d-9a04-cd9e8ef8247c CLINVAR:2498108 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f9f62b0-2fd8-40da-94ce-49bc7217f28a CLINVAR:2498108 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c328c7-1a3e-4420-b172-449e1688c718 CLINVAR:2498109 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6d4be2a-267a-4791-92b6-5f691fc34a84 CLINVAR:2498109 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d5ea4c7-356b-4687-8f89-11c7a161e850 CLINVAR:293712 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60a018d3-a6da-45f2-a427-eb2476dcfb15 CLINVAR:293712 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b024042c-653b-42be-8319-b52c26c7877a CLINVAR:133063 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2bcb92a-5c69-4f29-8f9c-237a0510d4f7 CLINVAR:133063 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6053e810-becf-427b-b287-95038404f978 CLINVAR:133059 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 027b01c6-fcc3-48ad-9e00-f973eec10e86 CLINVAR:133059 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1d49918-842c-4a5a-a207-14cbcbe9de9d CLINVAR:133069 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9f0447d-93e4-4168-a89f-e2fae12690fc CLINVAR:133069 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb8658a-fb8a-44b3-970b-4f5fce08d898 CLINVAR:1213826 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9e8e189-47ff-4e63-8c89-3446fe83804a CLINVAR:1213826 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 353cb0dc-ee57-466b-bd54-837a864283a9 CLINVAR:1018682 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e133679-1074-4486-acdb-16491953b6df CLINVAR:1018682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96de9681-854a-41d2-989f-1b4415bea26c CLINVAR:141972 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55a7b6a4-8c57-4dac-8ebd-2a069b532f66 CLINVAR:141972 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a34129a9-5e07-4c51-95f3-349310899c1f CLINVAR:830187 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ab5dbae-314c-4b66-a1b9-42dd036ce9b2 CLINVAR:830187 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f34a44e-7cc2-4478-a5fb-2080f703e827 CLINVAR:232594 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3083b6f-1efb-452e-b707-2dc5d49a8db0 CLINVAR:232594 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8247feb-92af-4bd5-b5a6-b1406bb980a0 CLINVAR:492220 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1ab2fae-9f0d-4322-9e04-e0de59c22bc2 CLINVAR:492220 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdefd477-970c-4124-90df-f3d9044dc86e CLINVAR:944799 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf42b07b-b8b5-41f0-b149-510c581ad6d0 CLINVAR:944799 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8edc86e-a3ba-4bdc-a741-a005b1bab493 CLINVAR:580962 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec227932-4c53-4211-a039-e4df7591ded8 CLINVAR:580962 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d8144d-e9ba-48ed-8099-9a58b8f8d2eb CLINVAR:241572 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d67fd528-16c3-493e-b634-819be796a0f7 CLINVAR:241572 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf092687-4611-49e5-bb99-4bfb12c85a78 CLINVAR:657328 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea8ca595-a801-480d-a02b-e4cbd2ee1ab1 CLINVAR:657328 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdf6a7af-7f36-465e-905e-a40cfb8fbcbe CLINVAR:818335 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02c2babd-fd48-479f-ad07-078efb51c0b5 CLINVAR:818335 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57f36524-e6ff-43dd-a7c0-585672907211 CLINVAR:185108 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c788e15-e1e9-4dca-8472-52d826e0dc07 CLINVAR:185108 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dda055b-9849-4cbb-9379-984e0a7560b4 CLINVAR:126609 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f080003-2d6e-4aa7-8d94-bfc953bddb01 CLINVAR:126609 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52e2c33a-8550-4004-8088-a97c9c384ff4 CLINVAR:482029 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4860cda0-c99f-44b9-93f1-fa3be7d3c729 CLINVAR:482029 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f44b81de-4457-4804-a702-e6dfb23221a4 CLINVAR:143966 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c74b442f-b321-482b-8fec-223a652cce91 CLINVAR:143966 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5e46332-4dbf-4738-aa22-545b1f88ba1f CLINVAR:186990 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8ca6698-6359-43f4-aa19-8ba59d495420 CLINVAR:186990 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9791c5f2-91c3-4916-939e-f51ac89844f9 CLINVAR:126660 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9690f1a7-a19c-4436-b644-8edf17195a92 CLINVAR:126660 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d749608d-21a2-414e-b4de-a892c46c8a99 CLINVAR:2498117 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 381b6259-d599-4714-ba15-daf1b3cff8c2 CLINVAR:2498117 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1da9d0f8-5cdd-4170-916f-e6b71bf50802 CLINVAR:1453402 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75a2fd0f-90e2-46fd-8189-8afad189eae6 CLINVAR:1453402 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ec32da-8898-46e6-8068-93184a0cb64c CLINVAR:187262 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4234a2ee-a46e-4afa-b5ec-a0f86e7020f6 CLINVAR:187262 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e767f50-b93b-4fec-8842-768a12d2a4a3 CLINVAR:232977 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77de2cca-18dd-4ecd-a920-4fae25d90633 CLINVAR:232977 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d4089d3-87d6-450c-b379-ce7aef83a86f CLINVAR:126711 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de4d22cf-abab-44e5-8bd0-4f2f904a54ec CLINVAR:126711 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9e5b477-ecdb-42ac-b308-ce583e00815f CLINVAR:126737 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 009e0c7d-6613-4b62-9171-d93b81517e76 CLINVAR:126737 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68fd2b35-7857-4613-bb54-42c96a07eb0b CLINVAR:126739 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ad63194-fa33-435f-9d3f-96eec2e5d8ca CLINVAR:126739 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618c56ea-9b99-4282-a631-8faf72b6a891 CLINVAR:2498118 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac514762-dadc-4380-8057-07e6fa050a5b CLINVAR:2498118 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 617094dd-12c4-4d52-8d33-d6e93b99c7e0 CLINVAR:128144 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9bbf70c-6110-4b29-ada2-fe9b8d632165 CLINVAR:128144 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efad573a-78cb-4895-9e02-bf189ecd73b1 CLINVAR:186820 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0ae66a6-f124-42d1-a866-ff874addf0db CLINVAR:186820 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c051c3d2-3d13-4f72-acef-5655fd53fa76 CLINVAR:461007 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdce01db-b9eb-417c-b160-4c20405cd599 CLINVAR:461007 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc7a9bfb-c08c-4f9c-affd-db1c09b08af6 CLINVAR:484222 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22412032-8425-4ed5-8696-881c87775eff CLINVAR:484222 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e520b00-7a15-447c-a525-f3ed0b81c521 CLINVAR:241571 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79df9f3d-b37e-4441-986e-f508ed744540 CLINVAR:241571 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ae41bf8-923e-4efb-b5d8-a5c57a3b4ce5 CLINVAR:410148 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a72146a-8f31-46d9-a16a-a6905e1d5830 CLINVAR:410148 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 571a6afd-1cc1-46cc-b4a5-eaff416de598 CLINVAR:480243 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8eaee387-f38c-40ca-adea-6363e492a1c3 CLINVAR:480243 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8962bfe5-0570-4767-8057-da08648d0a6c CAID:CA399789759 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f78eb2cc-994a-4550-abd4-6eb2150482cd CAID:CA399789759 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 549d7195-2e00-4240-b629-e18cac479d4a CLINVAR:2498366 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 088a00b5-ba93-4618-b142-ce4c4d83e2c7 CLINVAR:2498366 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba6d3efc-5b11-49cb-a55b-f37908c6b5d0 CLINVAR:2498367 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b739f9ab-5823-4f73-adc8-353872c46e77 CLINVAR:2498367 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88830758-f6c3-4f1a-813f-bf2439c8ea2a CLINVAR:374016 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ca9aa38-5969-4165-8ac2-7c15d7fe47af CLINVAR:374016 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cd5e31c-d959-4163-a69a-e99f9809230d CLINVAR:374015 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 252183d3-576a-42e1-8c9e-9360edef0678 CLINVAR:374015 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddd8a566-d1ed-4f74-b987-950e3d1f1589 CLINVAR:2498368 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cbc897c0-97a1-4c0d-9bea-75d609cb0fa5 CLINVAR:2498368 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1616060-20ad-4cbd-b605-a522ab3dffe1 CLINVAR:2498369 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71bc53a3-ff2c-4d40-8d0c-c904cd2481a8 CLINVAR:2498369 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde1f5f1-6172-42bd-a6b2-c45439386057 CLINVAR:2498370 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fec26675-ec30-45b1-b0f0-9e6da8d9dcc6 CLINVAR:2498370 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6845ee98-c979-4702-a750-d8e94b0d1e68 CLINVAR:2498371 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8d1b6b2-a96e-43d4-9ac8-689b1ca3997d CLINVAR:2498371 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15798ce8-1ddc-4ff7-ad53-7bcaadee5494 CLINVAR:2498372 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af7ef4d0-0e99-4a95-a78e-06f142ed3ac4 CLINVAR:2498372 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12bd9985-d882-4d46-b4f6-6a22ffe12da2 CLINVAR:133058 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51a05a5c-6190-48c0-b966-b48827f90b9d CLINVAR:133058 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16459ca5-6717-445a-b974-b1fe4f9b9321 CLINVAR:474888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8286240-8231-4936-8266-7eb37d29c05d CLINVAR:474888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 634ab559-4279-4bc8-a069-bcc0e2d9b9cf CAID:CA891834518 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dc72a24-ed45-4ff6-9e9b-56ef833913e6 CAID:CA891834518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69a4debe-05ef-449a-a9c8-6df000aff37a CLINVAR:932828 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f33cdcf-9e02-4269-96b9-9d1c1a67995f CLINVAR:932828 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69956782-b529-495b-8390-270809cc193a CLINVAR:252000 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ee19cc2-4367-4b0c-8564-0618eeb1601c CLINVAR:252000 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 114de93a-8043-4006-a0d4-bd0a8da7f25a CLINVAR:406163 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 951f2291-a8ca-4d79-9226-70cdf9afebcc CLINVAR:406163 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ee4d3ec-b2c1-4dba-b059-2a25040241eb CLINVAR:226343 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87aca293-8a73-4007-86ba-d082bd29d2d1 CLINVAR:226343 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10b2a397-dfcc-4641-953e-d7e80fd65d17 CLINVAR:689349 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 487cd61e-eba6-43e8-bd78-66e2f266736f CLINVAR:689349 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8000f495-4ece-451f-9f78-f1699b3ba7d4 CLINVAR:440698 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3713c0fc-0963-48be-8f5c-581c1540a751 CLINVAR:440698 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f17572a1-69d6-4872-8eda-74bedb5f9ec9 CLINVAR:440697 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f41f44b5-6aca-4fc7-9249-5c55abc2d6f4 CLINVAR:440697 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aaca33e-35d9-42de-9ed5-1e4a76c2d3df CLINVAR:252321 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94c70457-370a-4aaf-a21b-928125ee4dd9 CLINVAR:252321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7b2505e-99c5-40cd-9041-7219d3444e5d CLINVAR:251850 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 072d89dd-80a4-49b0-a900-bb89b321dafc CLINVAR:251850 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7df077f-4ca2-4a55-ae09-1b899fa34a06 CLINVAR:440645 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b22000b-2c26-4591-8108-547a90fc2d1d CLINVAR:440645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a2ea282-f83d-4f56-9cbf-6a81d8fb9f4a CLINVAR:251847 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01d07837-3b41-4fdf-b579-8936595b2e78 CLINVAR:251847 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f84415-509e-4573-b039-d30b380f637e CLINVAR:440646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 339dfd34-d502-45cf-a875-12715eac9ecb CLINVAR:440646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c77e88-afbb-4909-b232-47e977df179f CLINVAR:430740 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4d74de9-7456-4a05-8813-2c519059bfd1 CLINVAR:430740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d993208-2e7e-4686-afb4-036e6d9831d8 CLINVAR:251649 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1db66f9-efcb-4735-b9b3-6dc1d22450bd CLINVAR:251649 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67fd472f-3252-492e-9e17-f940ea437fce CLINVAR:431519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92db919b-35a3-43bc-a67f-28a74352e946 CLINVAR:431519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55a91fd3-0bc8-44f1-ba9c-e582828568ab CLINVAR:251651 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a6c5808-9f8d-4bac-a61e-e9f782b14915 CLINVAR:251651 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6cf388-21a5-4493-a57f-dedef327a37f CLINVAR:431508 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7820b8b-0cd2-4200-95bd-b3d30e8695c0 CLINVAR:431508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59d91270-0d2a-4e62-a341-22e83814ceae CLINVAR:251127 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24563aae-7539-4877-977e-75ba6533340f CLINVAR:251127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a226b8-b0b3-4f9b-a144-fd640a7c7186 CLINVAR:251537 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98f71546-00bd-4996-b344-5390e786d2d4 CLINVAR:251537 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d71f4ccc-e1ba-469a-9b93-c23ed322e58b CLINVAR:161280 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d9ca4ab-a2cd-4db5-80aa-9c9cf9562823 CLINVAR:161280 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 066edc63-4a03-4303-9051-352efd1e6183 CLINVAR:251519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 552dc76d-f789-41ea-af38-8b55053fec94 CLINVAR:251519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c4e4aa7-9c19-4443-b143-b8cb11133fd0 CLINVAR:1437514 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c296ccc1-2ecc-4dc3-8cdb-17b98f730fa3 CLINVAR:1437514 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c2bf50e-8464-482b-97ee-229f601f2ace CLINVAR:251521 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c745200a-9642-47d6-a703-a5840c8f6109 CLINVAR:251521 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a26d8c5c-02b4-4336-8c8d-03ac16e897d7 CLINVAR:251081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8acdd145-5afd-4697-b578-06a9296ba24c CLINVAR:251081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 593f5540-4580-45a5-9943-4d84c117888a CLINVAR:1331775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e069a83e-bf35-4f13-a2ec-df797411fc58 CLINVAR:1331775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f01ef3-6974-4c2e-80ad-3ddaebdbafd8 CLINVAR:251362 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62681d06-fed2-4f9d-911a-69500ebefc79 CLINVAR:251362 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee8e926-3067-48d6-b2b7-dd7b714424c4 CLINVAR:440599 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdad2660-2d6f-4c6e-aec9-e248cce85000 CLINVAR:440599 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea02693-d400-4195-97c7-ce7d45ca94b8 CLINVAR:417370 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da41caa7-a681-4316-9901-cd11668bbd71 CLINVAR:417370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6361eec0-003f-4ae5-9268-d9d0cc6533c7 CLINVAR:369855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3098ac99-21c1-44c4-b6e1-b70f1c58dd9a CLINVAR:369855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 217a2926-9d72-47d5-ad10-a060bf056852 CLINVAR:431513 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 302d9a8d-193c-41d2-b488-44a65cca495d CLINVAR:431513 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df170b3e-a726-4ed5-9973-4186f4a9b57c CLINVAR:251223 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd636b43-8f00-4c76-9158-009c0e6daaa9 CLINVAR:251223 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b3c60d0-6e92-4b9b-b89f-742ef91804e5 CLINVAR:183098 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ddb8f4a-f090-4e47-8baf-5281d94eb503 CLINVAR:183098 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ea2051-43cb-42f7-b11e-c5cf2cbbe46c CLINVAR:977996 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b641c6fb-98c4-42c0-8f8d-4f30c89aebc6 CLINVAR:977996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4d6a67e-4e1d-4907-a3e5-3cc1d9488b03 CLINVAR:977997 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a69f2d8d-1652-4072-a77f-d5b22115f4a9 CLINVAR:977997 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 190da9f5-d819-4019-80d8-1c17bd537c49 CLINVAR:1466547 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c4b710d-66fa-40e2-960b-76b1f616a633 CLINVAR:1466547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd5aa437-219f-4e1e-9f3c-633287b379db CLINVAR:431547 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e2abdab-c6fc-4640-9933-aa4b600a0d43 CLINVAR:431547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab8a96b-4d7c-4243-b886-6d77a24e47aa CLINVAR:251691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f471f712-a283-41b3-b2f6-95838cf46fe9 CLINVAR:251691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f47cd731-b99e-4f09-ba3b-2e681d928486 CLINVAR:440626 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10957b99-e156-4423-805d-78fd98c6fd70 CLINVAR:440626 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db03a423-8b01-47de-8468-2db51562d206 CLINVAR:251692 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cef81bf7-8771-4d82-83a1-e06d69d0c858 CLINVAR:251692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e8ddbef-74a8-4d73-a394-cd644b40e117 CLINVAR:252120 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e57fe5cb-36ce-4435-acf9-6879c8ff8487 CLINVAR:252120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 688af129-e1ec-41ac-8dbe-da632f24f213 CLINVAR:183106 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70cdd117-bf10-48bb-932b-f2cbad484d92 CLINVAR:183106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8004e938-079e-4006-a39c-b4f9c85fdb0c CLINVAR:440618 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83529b72-ebdf-4462-84b1-15ea1d14b403 CLINVAR:440618 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9b1934-37f5-4953-a4e2-2803c5428b0b CLINVAR:251605 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a820f5e6-b5ec-4224-aa43-5ec2edb727d4 CLINVAR:251605 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acc8a865-3c8f-4084-92e1-f4c6c06a5717 CLINVAR:251406 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36b6bbbb-ef08-4331-8953-f18e10248fce CLINVAR:251406 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ff13a0-31be-48ab-b524-9797623c9107 CLINVAR:440623 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99851cee-9f28-4592-be46-9d4547626045 CLINVAR:440623 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222fccfc-f714-42c7-bdd4-6c70080e0b28 CLINVAR:251645 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b519eae-e86b-4643-a6e3-8789be17646d CLINVAR:251645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 734358cf-2ef8-4c65-b60d-d3d92a7cf081 CLINVAR:183114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 513456f2-8ae6-40e1-986a-03e49f9760db CLINVAR:183114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d04f2df-85a0-4d7d-9083-560bd7163674 CLINVAR:226332 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73c39798-138c-4d9b-8b93-3af50d247402 CLINVAR:226332 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c787783-f4c6-473e-b18f-df3e2f38fe18 CLINVAR:251735 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30fadc01-3db3-4c09-afaa-203e8df8325f CLINVAR:251735 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f857907a-c931-4a3c-8053-43a7a5604d0d CLINVAR:431523 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 198d7870-bda9-494b-a6de-3321c64af70a CLINVAR:431523 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44469be2-3166-4a56-b85a-6d568ea55661 CLINVAR:369861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c61be9a-c41f-4a05-9ddb-1390773b7676 CLINVAR:369861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a396edf8-e60f-49e7-90f9-6aa4c12a0db8 CLINVAR:252033 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2efb087f-d490-43a9-8783-52a22427d2e0 CLINVAR:252033 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d4f3eb-4757-43c0-9707-63e9a17e7627 CLINVAR:252032 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cd75c47-2325-42f0-8f90-0f90633f8a18 CLINVAR:252032 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b549299-54af-4bef-b29e-9b222f4b1a42 CLINVAR:226402 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d833f79a-8289-488b-921a-33e5833159b6 CLINVAR:226402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d32c8833-662a-4862-b085-08ad0890223a CLINVAR:251425 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b83d8b57-3977-4d1b-84d7-a742fd208149 CLINVAR:251425 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 710fca28-1eba-4ce1-8e5d-a1609a84f5f1 CLINVAR:251121 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5e5044e-182b-471b-8f25-c0d1571753e3 CLINVAR:251121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cdecfc0-6c8d-405f-9b2a-e3e5e8510dfe CLINVAR:251122 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d81b846a-a2dd-43a7-b5fe-e9011c18f5fd CLINVAR:251122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2f3d1b4-a2a3-429b-811a-03c8609c2074 CLINVAR:440556 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11635d4d-2d92-4cb7-8698-ad51a8bd2d62 CLINVAR:440556 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04fee089-5a70-4589-85d2-dd108d81d651 CLINVAR:251583 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a690098-4cba-4295-9207-cc9fa9273b08 CLINVAR:251583 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09cce081-1cd6-4f80-bd33-263c24b24aa3 CLINVAR:918325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c91b413-7510-47a8-b505-7e390d348714 CLINVAR:918325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd298a64-434c-412b-8641-ef87b2d64279 CLINVAR:403665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5766883d-9012-48fe-898b-4782ca9ea56a CLINVAR:403665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00044c33-9efb-409c-9210-5d8afbd831b7 CLINVAR:36452 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f362cb20-563a-4a70-b6a6-212cf0fe26ef CLINVAR:36452 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ed3f90-cebc-4fa2-ad0c-6bf5486fa07d CLINVAR:183083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac504963-4d20-46a2-ade6-9bac619b0900 CLINVAR:183083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f051f009-9d13-4f3b-861e-75a8bc3386ae CLINVAR:251088 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47a46f2d-aacc-46d7-827b-fa4f1efe2615 CLINVAR:251088 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3a5238c-4aa2-4a79-bf81-cd05d04b268d CLINVAR:924271 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6d8d37e-0e51-43ed-896b-10807defaaca CLINVAR:924271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae31d12-417f-45ec-b3b9-ea216943050c CLINVAR:251828 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7ae8feb-b36d-4aa9-92fd-89af80dca502 CLINVAR:251828 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66803d4a-08c3-4f79-985e-2f7956e6c5f0 CLINVAR:251894 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cfb3eb9-0b86-49f6-9e20-936bddad52e2 CLINVAR:251894 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7be2412-6f06-4b54-8177-3e6c2afbf097 CLINVAR:183105 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b41c7ea-7c0b-4cb5-8b0d-ae0d8b9d964c CLINVAR:183105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffdc41b-9a4f-4672-85d3-35b264729778 CLINVAR:926520 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 157d5c26-0c0e-438e-9fa8-556f49a50e51 CLINVAR:926520 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42be8da4-b2a3-4f27-b134-0b0a0476f32a CLINVAR:225181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d059fc8-12f9-4c89-b446-d5a8f0ea5557 CLINVAR:225181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d70fe05a-1741-46e8-856d-3fa35e928237 CLINVAR:251587 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abbd69f4-f101-4d0a-b22c-636837c8d36d CLINVAR:251587 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8a2821b-e127-4e1d-9d08-3a672e273cc6 CLINVAR:226299 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b67c2b4-28fe-4893-a976-5298197bf773 CLINVAR:226299 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d70e02e-76e1-4b5a-84ce-7336570f5936 CLINVAR:1395739 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e7fa87a-aac4-4645-94f5-ffa0dec71498 CLINVAR:1395739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69cf8302-3aee-4488-8e20-a0635c6f7126 CLINVAR:2500836 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09830075-fc07-4268-8654-e97498e8ed5f CLINVAR:2500836 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec4fd191-1154-4a66-a1ff-a490a6af09f0 CLINVAR:2500835 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64cb8eaf-63c2-46ba-a8cb-eb41d5f6939b CLINVAR:2500835 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fae058ce-1796-46a3-9169-c984c3956bbb CLINVAR:2500837 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a5e35ca-ec5b-4d95-99e0-1a995b30a710 CLINVAR:2500837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23531d8a-bf63-4958-9332-d02665611063 CLINVAR:806282 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c600fabb-59a4-4eb3-b1c0-d264ce958937 CLINVAR:806282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea1394b-59c2-4066-bcb5-e6a44bbef6f8 CLINVAR:2500839 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de331205-fb89-4b1b-86ce-3f6952c298c3 CLINVAR:2500839 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90bdefcc-9e40-4207-a04b-5af525ab040e CLINVAR:2500840 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 390f4684-3d26-4482-8637-e70b26d42e49 CLINVAR:2500840 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa69b57e-0ae4-432b-834f-61c960d1a9d8 CLINVAR:2500841 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d90a99b-5c7a-485a-9979-5533cc52f62d CLINVAR:2500841 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92aff6ea-ecec-4f1e-bed2-f3a24babab37 CLINVAR:875032 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen feb500f2-39d8-4e0a-af9d-397bccda8797 CLINVAR:875032 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79af7abd-963d-46d6-8819-8ec609501c04 CLINVAR:1173106 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccf25c36-0a74-42e3-93d9-1d0f1ac06a8c CLINVAR:1173106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c7ee10-67b4-497a-954b-f54abd498f69 CLINVAR:2500832 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88a8c1fe-d4fd-4e54-aae3-fdedf64901c8 CLINVAR:2500832 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57591f03-da75-4f48-8487-8dc03a0b926b CLINVAR:2500833 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54224033-67fd-4246-96c6-757f31048a3d CLINVAR:2500833 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7e0db94-2b8a-4fe4-b937-b083d265434a CLINVAR:1048923 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4539639d-a19e-49a9-9111-e2647598a2cb CLINVAR:1048923 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b68438e1-0bf6-4728-9442-4fad1c4dad34 CLINVAR:1302992 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea33c5bc-2709-4a60-b522-ec70bb890247 CLINVAR:1302992 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d344e75f-ea86-4c6a-b521-7cb54236050b CLINVAR:877000 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d36ac7c2-86af-4168-b453-7c9a1a4337a2 CLINVAR:877000 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b98c2e9-e0c5-45c8-a306-a67410ff3a44 CLINVAR:2500834 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49a7090e-5b3d-4a61-95cd-d6d7c1493614 CLINVAR:2500834 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51630d57-a42a-40d7-9d41-81d65c81a579 CLINVAR:431972 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3099a5f2-dfb0-4f01-984a-91b608710445 CLINVAR:431972 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9519f96a-863a-4f2e-967f-d098cf214046 CLINVAR:242139 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a66cba1-d7cf-4f64-a864-28de9365c4db CLINVAR:242139 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf05af28-b561-40a6-b3d1-a67e1617f717 CLINVAR:479634 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3ae1edd-b057-4541-8f00-41dd62ccd20a CLINVAR:479634 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f179093e-6541-4722-971d-9195b9caeda0 CLINVAR:825798 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10293be8-5a18-4aea-baea-1f7ae7f2d1be CLINVAR:825798 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bad89a0e-31ce-4c62-b19a-b62bd03e2dcf CLINVAR:825790 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c9804f9-b5d1-4692-9d38-dc225121bfb4 CLINVAR:825790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f4be70-6e76-4d85-803a-7d3b3874fbe2 CLINVAR:825823 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 604cfee5-29dc-4e43-beef-1a76e176b5b0 CLINVAR:825823 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee18c0fa-c773-4f6f-bdd0-7424440f0b5a CLINVAR:479625 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4bc3b73-734b-48a8-92a5-4cfe111bbb65 CLINVAR:479625 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b907f30-b210-44d0-bff8-a4ecd169bc16 CLINVAR:2506404 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f64c912-df57-4a8b-b5a8-58cee7594891 CLINVAR:2506404 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2eabd08-552d-40c7-82f7-d1800fb9857d CLINVAR:2506405 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f30e6de-1d95-4c48-8f46-0721ee828799 CLINVAR:2506405 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6baf580-5f5b-42de-86ad-60e97d67690a CAID:CA399795582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edc34dd7-7117-46e4-8ba4-3caa6baeb515 CAID:CA399795582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8503124-7038-4744-b3df-2775bddcfa6b CLINVAR:2506407 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4f09e15-ae95-4a94-86da-ae4daa121f61 CLINVAR:2506407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd62ad94-b6f5-455f-9551-889ea30208af CAID:CA915940265 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 917bbc9c-eee5-423a-8130-b5959b350a27 CAID:CA915940265 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 220d65e1-c3ca-4f1a-9693-e82cc4bf8e27 CLINVAR:2506409 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2305c153-85ee-4b3b-bfc6-5a0f635c7ab3 CLINVAR:2506409 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b57ec89-a0e7-4bdf-aad9-7d8de52a0838 CLINVAR:2506410 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c058d5c3-67c1-4259-8f13-4ce7e62e9a73 CLINVAR:2506410 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f611a5bf-9573-4d60-ad1a-e47e09d3308f CLINVAR:2506411 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55614783-8bab-4bf7-9a1d-0bfc4ec7a192 CLINVAR:2506411 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57435b8-a67e-494f-b68d-42f4bd77ce16 CLINVAR:2506412 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 864c6c60-57de-42d2-a5d0-12f419036258 CLINVAR:2506412 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e157dcce-5f37-4759-93b8-ef0992d1f952 CLINVAR:9590 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7df5b5bc-aa7d-462d-b794-15e973eda9e9 CLINVAR:9590 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e61c304c-5f9d-4b32-be57-2f00c8976b74 CLINVAR:30004 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15c6eaf4-c932-4972-9d34-a1ed3825a0b3 CLINVAR:30004 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf90e271-a3db-4737-b510-087140705a6c CLINVAR:9569 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a14b2209-db24-429a-8aa5-6b4016275df9 CLINVAR:9569 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb279902-e4ed-45f5-aaf9-8e66247c5eae CLINVAR:693062 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f0c201f-72e9-4b70-8303-57471e6d5399 CLINVAR:693062 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39292ba7-2134-4082-91f9-c72c177d5e5a CLINVAR:9722 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 556d2dea-7ff9-45e5-a6ad-f3a7709f8593 CLINVAR:9722 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d27e957-9b63-411e-b112-c43ae49d374b CLINVAR:133144 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc76fbe1-14c8-457f-8ff1-adc3cc98c646 CLINVAR:133144 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1fe9727-9e18-4c4e-b01f-8046fbd6f16b CLINVAR:932844 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0096c90a-6844-48d5-bd98-5f1c5901ea48 CLINVAR:932844 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 157ee1dc-5b07-4b17-83dc-aac0a3e15fa8 CLINVAR:810628 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cd7f892-b00e-40e6-bc13-25a8bd8c140f CLINVAR:810628 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7308436b-e2b2-4c2b-bb2b-bb551fbdf977 CLINVAR:1312506 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2419fcce-0a14-47d7-96ad-55cf9ecff66e CLINVAR:1312506 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89d98bb-297e-4ab9-84b1-cc13d8d267cc CLINVAR:8304 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e818dc2-d1c4-4aa4-9150-ae9f2e64c47f CLINVAR:8304 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b7c561a-8536-41ec-9312-6a2537dbb040 CLINVAR:1067935 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c100920-f3ae-4890-a525-4d1635b8c95d CLINVAR:1067935 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b49e6a9-39db-4ee4-9785-442658511f04 CLINVAR:2570636 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen caf1bd26-5544-4fce-9475-1823ca5cf382 CLINVAR:2570636 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e55102-578c-4e75-900c-26c42dfd6408 CLINVAR:939221 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2a77a9f-2571-4c9b-af04-64c1ac28255c CLINVAR:939221 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b8b4037-1987-474e-87f9-2066e87bbe3c CAID:CA504731701 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 318270fe-751c-462f-9a02-b5d1baa974ef CAID:CA504731701 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b2f042-a4de-4bf6-b3d2-bf6b111f975b CLINVAR:2570638 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb0dfc1c-3a00-43d8-a28a-01e4df927166 CLINVAR:2570638 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdbd6a11-3894-4000-b218-d675d40cf945 CLINVAR:2570639 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 344e7812-e481-481a-b427-3795f77fa29c CLINVAR:2570639 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff9df5c9-e481-4340-a393-43ce2a2f1553 CLINVAR:2570640 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38f01a02-3bec-4198-a97e-960d1a37b487 CLINVAR:2570640 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f58cf0e8-0122-47b4-8d73-23e2a60c83a2 CLINVAR:8303 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd9ae3a4-434d-4613-a996-1ad354b81011 CLINVAR:8303 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b83b995-b100-45ca-80c8-9e21953b7d34 CLINVAR:947458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6aad4861-8560-4819-8556-89a2360b4181 CLINVAR:947458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 401d19f1-800e-4dae-9f3b-25c4b8e89445 CLINVAR:449690 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94f83c68-82de-4a76-8f54-a318277f6df2 CLINVAR:449690 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60af6348-c61c-46d2-b4ff-35db8410f082 CLINVAR:1361089 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebff4934-2ca2-405e-92dc-c7f652d66b18 CLINVAR:1361089 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2d1faf7-36e8-4665-928b-58934a7beb05 CLINVAR:2136533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da50ff8c-dc12-474a-9bb2-4545afde21e0 CLINVAR:2136533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48b419e2-8a74-4e21-b1d4-c2750251021b CAID:CA2018007653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9dcf530c-03b1-4663-96ce-e2c555442a2f CAID:CA2018007653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ff0088b-6e25-4ca6-9a99-fbdf5f11ba1d CAID:CA367401305 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 636f5d76-d841-468d-aab6-ee4421c90aca CAID:CA367401305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a459fd58-b2d2-4182-883f-9994cafcce34 CLINVAR:36224 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ce5d767-10d6-4f99-a545-113b3d20f763 CLINVAR:36224 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec319d9-d533-403e-9e15-5713d58fa662 CAID:CA367402542 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da8b087c-1f0d-4d54-a89c-cb68432c9107 CAID:CA367402542 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b854bb-5e32-4d40-9c63-7a6d9a52a1c4 CAID:CA2573102977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bc840b8-3358-4dcb-80ca-cc0000a031c5 CAID:CA2573102977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ca66a64-7375-4c4d-9af5-6eaa5f83dc50 CLINVAR:2503894 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55aaff36-63cc-4068-9cbf-7ff48cfea07c CLINVAR:2503894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144925ed-a892-4f4b-bfc4-4660c0b20fbf CLINVAR:1299751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff4b84bc-64b6-4f46-8ab8-d9e849a731a5 CLINVAR:1299751 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b70f906-8603-4976-bc2e-2dbc427c8dc0 CLINVAR:1299750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aceb92d1-7ee5-4bf8-8e63-9d30b3805159 CLINVAR:1299750 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b0be2f7-072a-484f-9700-9e6de8a9565a CAID:CA409103994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f56a2aed-c9ad-462d-ad8e-978ca422b463 CAID:CA409103994 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26927ccb-5a46-418d-a14b-6ae9974785b3 CLINVAR:393110 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0558f1ed-0d8e-4c7d-8d1a-c9add47946af CLINVAR:393110 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b38bc742-c40c-4aa1-8699-6db38623f423 CLINVAR:447515 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68727a0a-ca2f-482b-bb29-da92be96a5d0 CLINVAR:447515 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad9cf0c-48c8-4c33-9435-3dfc17eb1ede CLINVAR:36348 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5918674b-f6c7-438b-b87c-a7e36c42119f CLINVAR:36348 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27be3d5c-0da0-4ba4-840f-23cb3bb3021d CAID:CA409104377 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2b63ffa-6eeb-4791-8dd9-2563b279efb9 CAID:CA409104377 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65545e19-6800-4ed3-945e-2d7593c3603c CAID:CA409105868 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b38b169a-6ffe-4909-8648-c5313ebc47a6 CAID:CA409105868 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce89032-917d-40c7-bf6e-6ebe1fc9c2d3 CLINVAR:9215 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a04b7ce9-c357-49c0-8653-5d031c9e7a43 CLINVAR:9215 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ce868d3-ed76-4281-895d-d53ab6ed1f40 CLINVAR:36356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b80865f-400b-4e1b-b3d4-4233a0cb7ce8 CLINVAR:36356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 818ad44a-4c55-41bb-9ebc-775bc23cdf75 CLINVAR:1700660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c276f144-6cb7-4548-af42-cee02eaa006a CLINVAR:1700660 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abda7449-6eee-49a3-8a79-ee7efcf946ad CLINVAR:586021 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de927a1e-2c19-48f6-8396-5c25cf86d164 CLINVAR:586021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c906d8-1bb1-4e5d-a4f3-966e60bc6bd1 CLINVAR:972810 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78b50c6a-c70e-44ac-99f4-ea3a0fb3761d CLINVAR:972810 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7ad2bec-2288-4d43-b334-3f23567e463c CLINVAR:36344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c9398f0-e011-4f6a-ba48-aef47a5f12a3 CLINVAR:36344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e79ee919-6511-4cb4-9bfe-0493c6ede63c CAID:CA409110466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a3f026c-ebc9-4379-a680-f22c558154c3 CAID:CA409110466 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a8de1d8-6f7c-49b1-8046-a5aef13d0d6c CLINVAR:875084 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b88b8831-9923-402b-8ce6-49e9be9376ec CLINVAR:875084 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f1586f-b2da-4489-bbca-e08c67479a5b CLINVAR:2505289 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af384600-4407-489c-a13f-a1d9c1ccc624 CLINVAR:2505289 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8035ff6-4071-4bc3-b97c-ebfc254048db CLINVAR:293710 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd909cbd-e909-4cc1-ab32-62fff02aa357 CLINVAR:293710 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae34b7b5-7886-4fe1-a538-7a2cb6ba64da CLINVAR:2505287 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d62ab930-67fa-4a95-954a-e66be256555b CLINVAR:2505287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dc4d4f2-85ac-44a4-9377-d08d68c5b5fc CLINVAR:2505286 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5f6d6c1-e3a1-4aee-8bbc-88496a7b5103 CLINVAR:2505286 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ce5c697-0456-49a8-8fc2-6d1e0b6d98db CLINVAR:2505295 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89497bca-b569-4a2c-93a5-2951cc38bc23 CLINVAR:2505295 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c7b997-e710-4e4c-bf68-5f9ef3d49903 CLINVAR:2505294 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef4ff84b-a4d6-47fa-849f-1292c334f9c4 CLINVAR:2505294 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b5f8a3-ebb8-414e-95f7-bc708ec5fb3e CLINVAR:2505293 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8da61987-90eb-4ab1-bbf6-7c43021037d4 CLINVAR:2505293 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d73fce6b-f117-4db9-ad29-52e701b8ce92 CLINVAR:2505292 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 650a76de-f1a5-492d-ae21-c988591acb1e CLINVAR:2505292 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cd32da5-b82a-48c8-8564-6dede6bc5e23 CLINVAR:2505290 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e97607e9-0764-4796-a114-05b8f01825e2 CLINVAR:2505290 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 492eaae2-1b74-4c15-963d-cd49acbb6ad2 CLINVAR:877041 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5c28f44-9d4a-4d5f-9962-5cf10105605d CLINVAR:877041 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0af2358-644b-4f91-8c1b-190cb477cee4 CLINVAR:1324771 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c46d735-d577-434e-88d6-bb9d89fd2719 CLINVAR:1324771 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1204265-814f-4922-9328-e3907e01dbba CLINVAR:627234 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 923c642c-a8f1-46e7-91c7-677c33aef859 CLINVAR:627234 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b9fef8-38cf-4e2c-b29a-578f65ea4e1d CLINVAR:2506413 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94dbdce2-51fc-4757-ba18-244fe8e55b41 CLINVAR:2506413 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c2caff-4f88-42d5-81f3-2ea3aa776d98 CAID:CA400034479 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbf3349c-fff1-4420-98bd-1589f4051810 CAID:CA400034479 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02f6becf-6afd-4403-a6b2-eca417be4e60 CAID:CA399806084 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77aa5626-74ab-4f75-986e-828d2ff3d548 CAID:CA399806084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f916abd0-e498-4a29-b925-8ab9a36941f5 CLINVAR:2181112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 719de27b-3631-4be6-a0bd-77bcbbaed5c6 CLINVAR:2181112 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b119710-bdbc-418f-9897-d7d21de5dcd7 CAID:CA915940780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d4849fa-2856-4a60-acbc-3133e390e2cd CAID:CA915940780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96e531ad-c246-4b0c-b6da-ef47fc60a8ee CAID:CA399802364 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ec65ae3-c97c-47fa-9053-21bbf56e4acc CAID:CA399802364 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 624d582b-0ed8-4f5f-acf5-233a4476291c CLINVAR:892302 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00098212-560e-40ca-a9ab-b908879b5c48 CLINVAR:892302 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe67e93e-6c77-40fd-8d49-ef775af018b5 CLINVAR:983532 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 861d11eb-6268-4d19-ab2b-423cea7889e1 CLINVAR:983532 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f7824e2-20c5-4c63-907b-5f005250e588 CLINVAR:573140 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e89456a-ba03-467b-a56f-826721017162 CLINVAR:573140 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4c1508b-5765-43d7-8440-3b86854caace CLINVAR:932829 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a2fc697-a9b3-4a43-8795-7176e61ed447 CLINVAR:932829 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 317b95b8-e01c-42c8-a848-92f1cfb37217 CLINVAR:189008 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abda7e5a-aefa-4da1-ad96-f7ad67f856e0 CLINVAR:189008 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa461fc3-9cc8-48e1-bfd5-7427090598bb CLINVAR:2058739 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33cd36d9-895e-45d7-a8fd-3832df5b1671 CLINVAR:2058739 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69ecdf98-476b-440e-b4e0-63a2b586e971 CLINVAR:1623 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3757fe4b-b264-4b63-bd5a-a8bcdebfcf37 CLINVAR:1623 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4abec30-2f49-4cd9-b8f5-3366258c9a41 CLINVAR:406374 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff6a0ebb-d154-45a8-bf3d-0db0ccc34895 CLINVAR:406374 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0443f505-f9f3-45b9-8c22-02c04c25a956 CLINVAR:42420 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3afdae34-e25f-4a36-bd00-6ca52f3dc671 CLINVAR:42420 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b91fd95c-8476-412f-985f-e8827e1e7c31 CLINVAR:426140 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e374608-4726-4c7e-aa79-dca95e3e97e9 CLINVAR:426140 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d8b9feb-11c8-4f40-aa8b-38964d927e9a CAID:CA916084365 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61847944-6b50-4074-bef2-545c4016e93c CAID:CA916084365 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b370e4c-e7c1-488a-bea2-12ab0fb905ba CAID:CA392325892 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25f73099-977b-406c-96dd-0c7224cbae25 CAID:CA392325892 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc6215f-4efd-461c-a4c7-eaafb429e10f CLINVAR:200198 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30bf9164-f511-4e11-8a52-1858036ed78a CLINVAR:200198 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75d39b7e-e49d-44aa-b78f-dfb889579abe CLINVAR:431935 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a2d4cd5-105d-4beb-a08e-0ff15785f325 CLINVAR:431935 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab52d96-d435-4b3c-9260-2799f39a9715 CLINVAR:406332 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a397cd2c-4e14-4e7e-afbc-f4dad2484eeb CLINVAR:406332 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9621a9a0-c0e4-48ec-bab1-7c2aef9f7517 CLINVAR:373598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cad18d6b-cebd-4b40-bae3-22a029aba74e CLINVAR:373598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49734e3f-8e7e-464a-8c05-3f7e5fe373e6 CLINVAR:189623 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e82de7c-aaaf-4a20-9a0e-9b550eaa84a0 CLINVAR:189623 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fda0278f-d84c-4f9f-a255-464d6fe9094f CLINVAR:217360 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e365b167-74f0-41ce-bc51-3b36689a5745 CLINVAR:217360 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c1d258-8c67-4619-baff-29081fe4a66e CLINVAR:286706 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ceee403f-d40a-461e-a8f9-f454d3104e60 CLINVAR:286706 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd5914a-d858-4a92-b616-823d7740bc41 CLINVAR:452682 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6158c366-90af-427e-b695-12a5bcf7b548 CLINVAR:452682 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c20cec7d-6819-4fe2-8dc9-aa6ffa5a3521 CLINVAR:547390 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a970f43d-1331-406b-9482-9f7b980ab135 CLINVAR:547390 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6a3798b-5414-497b-9c93-ffc5f7178351 CLINVAR:658951 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6494ef7d-1dcc-43cb-aa69-bdedb28cdf53 CLINVAR:658951 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dda13ee-7aa5-4581-9082-eb36f1414965 CLINVAR:803714 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db40a22e-37d0-46ca-a20c-99ecebbb2080 CLINVAR:803714 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3ba6f5-e0c3-4922-a531-6b90a7b8bce6 CLINVAR:870171 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdedb171-913c-4d78-8d07-e9e6d231e80c CLINVAR:870171 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0835547-c996-4ec7-a1b9-2e27924e1f1c CLINVAR:985267 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de8a350a-f683-4aa4-8650-7d68e414b17a CLINVAR:985267 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5237e6fd-fc92-43b2-95c7-c93916443fa3 CAID:CA2573102976 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94708eee-539c-407b-8a1e-322efa7d4734 CAID:CA2573102976 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24563bfd-7efe-44c5-87e4-14f8b047c365 CAID:CA2497028747 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b015b2b-1c4d-47e6-96f7-5ff2b0bb6337 CAID:CA2497028747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9486f988-1526-448a-938e-b65d2195e1fd CAID:CA2573102978 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a5fce28-26a4-489e-8ccc-021bd4f5e4be CAID:CA2573102978 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7be5036-0082-4214-9418-5c7a617c2b7d CAID:CA2017997780 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 778e0d9b-4f87-43c2-b2ac-3f437018ac0c CAID:CA2017997780 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8083c752-ba0c-4b20-8706-3181ef67ff5b CAID:CA2017997779 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98f68961-6aa3-4787-9d4d-2159b7685769 CAID:CA2017997779 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89de8eda-1405-489f-b61e-183c47338b7f CAID:CA2496602227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd982552-750b-4f24-8ce9-0d44afcb537e CAID:CA2496602227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55bda2ff-15b1-4299-a900-efb6fa70d567 CLINVAR:1708917 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f345623-a9da-4c54-8da6-0217e46765ab CLINVAR:1708917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e23057f5-5c39-4dc2-9442-40541e56af0b CLINVAR:36197 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bd48cff-ec8d-468d-b876-5fd952dfadfa CLINVAR:36197 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ed2faea-e2ba-469b-8c29-d308693cf7d6 CAID:CA367397060 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64f0367b-3e91-4ae3-85a5-16ff256993c7 CAID:CA367397060 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3241edd-fa92-47b4-9663-adcf5234cb74 CAID:CA2017997767 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eae1a460-3acb-4181-a76c-bc633026995a CAID:CA2017997767 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9fba8e7-28ba-473d-bacc-ff80a23e21f1 CAID:CA2573106064 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c889c961-fdcf-4d4c-891a-375e8e6326ec CAID:CA2573106064 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cca45bf-6a3b-4387-865b-6506c86b0698 CLINVAR:36191 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d03d0ee-097e-4d65-ae37-2e3f0bee5bb7 CLINVAR:36191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8364e303-6f0c-436b-a46a-16bd21f32418 CLINVAR:1301411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b333d342-3886-430f-b20d-ea72a6c08173 CLINVAR:1301411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bad15713-ad53-4798-b72f-6885e216de18 CAID:CA1139771342 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f95bc049-733f-4b06-83ca-0a7db42cd0db CAID:CA1139771342 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61cdb102-4b4b-4c1d-aae0-ac14eef7dcc4 CLINVAR:817706 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22e3dce9-7062-4afa-a1ef-5e8f0951463a CLINVAR:817706 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d468586-043e-44b8-897e-9695f8e426d7 CLINVAR:597013 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c947452a-5f34-4239-b0e6-553b6bb8b15a CLINVAR:597013 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b94408e2-5a3d-4221-8dde-b3324df3457f CLINVAR:654347 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f91e47e8-adc6-4c7c-a964-eed511837dcb CLINVAR:654347 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e428d4d-d170-49c3-8264-f5c39370f9e6 CLINVAR:850340 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c57c275-f456-4c12-96da-812159542cef CLINVAR:850340 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 330f1a3f-4386-4717-a0c4-034b0cdaa8c1 CLINVAR:418562 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 141e66bb-d6ea-40dc-b04e-7211cac9a530 CLINVAR:418562 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7cbe294-57b3-4e1d-abc5-a8f6cea8aeee CLINVAR:211455 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 677d1320-3dd1-490b-a135-fdbc2cfbc310 CLINVAR:211455 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3800ab6-bd19-4acc-bee0-37bf8ef1c16e CLINVAR:804844 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e6e1a38-0347-4213-8b7c-deb289a8e2e2 CLINVAR:804844 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f97d61-8469-4225-91ae-e833a0cb3fc9 CAID:CA2017997776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 239e8ba3-1ba9-4863-8e05-6673e32919ea CAID:CA2017997776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4158f651-83bb-49b4-a6f9-b0da7f6c6964 CLINVAR:393448 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ada12f0c-8602-4bc3-a7ba-2978c3ecefd6 CLINVAR:393448 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa11437-7049-43e6-a185-40115afaec8d CAID:CA2017997775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 329e2842-3acd-4b08-b39b-919f238c2119 CAID:CA2017997775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e638a85-6134-4ea2-bfae-73b211b95ec0 CAID:CA2017997774 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7e1c01c-0a8d-47ef-a200-745823db1e57 CAID:CA2017997774 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d880eeef-b051-4466-88da-a4daf8e3e328 CLINVAR:421604 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75f05b14-1aa3-4f7c-b3d5-4cfbacc5a286 CLINVAR:421604 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c1c28fc-3232-4d72-87e0-2ea1ac53b6dc CAID:CA2017997773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8dea8c0-e3a3-48cb-8a21-96e8176586e1 CAID:CA2017997773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdec5c1c-5f4d-45ed-a096-0c2778030897 CLINVAR:1320655 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6373b4b5-7409-4bc4-8b6f-0c42ee314e5b CLINVAR:1320655 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f8ffd5-e7cb-4c62-ad94-42859a5ad1f3 CLINVAR:435298 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce3c2e35-de5a-4736-a248-da1b799b2ad5 CLINVAR:435298 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 819d1c69-0886-4e1d-b43b-d2b8204549ee CAID:CA2573106102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41db9150-6cc4-4d93-bd30-eedf054264c8 CAID:CA2573106102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8549dc27-9755-4e0b-bf74-15078308ca1d CAID:CA367397036 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 725c94a2-f4ca-4e74-802f-d4b6ecce6b0a CAID:CA367397036 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d9b270f-d407-4af9-a973-d0d3084be74b CAID:CA2573106063 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cffb58a-0030-48e7-8a21-8eae0fbdeafb CAID:CA2573106063 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 657c4c79-6d5b-49c6-a3c5-70306b1ad668 CAID:CA367397114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcba2c8f-013e-44d6-8d13-eb35104a0937 CAID:CA367397114 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 204a4409-ed5b-49b4-afad-d5b390942d7c CAID:CA367397285 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f2f75ce-f958-491f-b33e-4b0cca3493a5 CAID:CA367397285 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 675a10fd-f4e1-40f3-9119-ef4c6884ba7a CAID:CA2018007672 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49e8cba5-e4a8-48af-9c89-85140723faa8 CAID:CA2018007672 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6e70192-5a6d-489d-bd0d-f51bbad47eeb CAID:CA367397309 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2166f21d-92e8-4f28-9d91-cc9bc89d6e84 CAID:CA367397309 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11adaf0a-ff67-4c79-9dca-174a05455caf CAID:CA1139771322 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f235d43b-5b09-44b9-8842-b02858c003c7 CAID:CA1139771322 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24ac8549-64d5-4a28-98ed-0b9ce8bec174 CAID:CA367397313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 977f655d-e5ab-4e2c-8bce-93a8172e405d CAID:CA367397313 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ec1c0c-4c15-4b18-baf2-dfab1e4ba850 CLINVAR:252467 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47851f7c-3e92-4c21-9936-dc45a063dbb1 CLINVAR:252467 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 451f448a-064f-4d6a-801a-59373e0b626c CAID:CA367397324 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c27127e2-4d44-4854-a672-d43083f8c222 CAID:CA367397324 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c4215b-55d7-451a-abd0-e02c7198773a CLINVAR:36188 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7daa33d-3d61-4c56-a5ae-38f7c591177d CLINVAR:36188 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75544e80-a093-4dd5-935e-4fdbe4b44ecb CLINVAR:811525 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9724ecb0-2c2d-44d1-9597-5404c21a7305 CLINVAR:811525 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d01b55-f2ad-4832-b5b4-b4676351f2c6 CLINVAR:371635 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2169918-4b6a-477a-8741-65384514838d CLINVAR:371635 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a1c67b2-fc37-4ee1-a93b-378673e8de0a CLINVAR:932836 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f444b3ed-a3fd-4e20-bf63-878d00007236 CLINVAR:932836 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b2be98-7611-4c25-ac77-f20c0136bb06 CLINVAR:811520 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c100ac1e-1b25-46bb-b201-b09c2e486f80 CLINVAR:811520 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d665a4de-f3a4-4392-a3e9-609ef8e2a7a3 CAID:CA1139532272 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 992a0c44-31e6-4067-9107-83cbfa00b606 CAID:CA1139532272 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d42655-4514-4137-a73e-5357816eae2e CLINVAR:965068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57af43fe-8bc5-4c10-a149-f0cf2b038dbe CLINVAR:965068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 571d4c06-a793-42f1-8519-2a56be64a8cf CLINVAR:291163 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bda0ede-5c15-4a8d-b8a8-c6853ff41727 CLINVAR:291163 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31d604da-3f25-4bd5-861d-d4c94714abb4 CLINVAR:370981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8e1453a-90ce-49bb-8247-30fd49fb79ca CLINVAR:370981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be66b1e-3f98-4ee8-9195-43780bdc14e9 CLINVAR:932832 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ed6be1e-9f93-4493-be23-59414c45c4ce CLINVAR:932832 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29a9789c-a462-4f74-b838-ebd73d3196f5 CLINVAR:932831 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8eb3f9c4-560e-42d0-9927-9a43e66a6b6e CLINVAR:932831 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83be0943-76e6-4726-9511-689ade8ab1fe CLINVAR:656452 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5342921a-145d-4bd1-838c-0599d205fb31 CLINVAR:656452 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da073146-1226-4d13-a07f-9e2ea0affbce CLINVAR:932839 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b1de1ec-df13-4aa6-83fd-ef98350d8b44 CLINVAR:932839 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d886ed6c-9d10-4fc3-8ba5-dc87288be867 CLINVAR:178503 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf87abb9-88f7-4d4b-8e9f-0eb31784de7e CLINVAR:178503 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cef8951-560d-422c-92d6-4906447f362d CLINVAR:446446 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ae209ec-fa37-4f16-b3ce-d92b93893c0c CLINVAR:446446 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bf9aada-2984-45f5-9ab7-80b508e8e6cb CLINVAR:265402 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77afa1d9-63cf-47d2-9a78-8421a570f729 CLINVAR:265402 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e58d97c5-c44b-4ca0-b803-5f95d379093b CLINVAR:2570628 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a10bdcae-03d4-4ccb-8c67-6923c928c2cb CLINVAR:2570628 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d80d161-05d0-4bfc-90f8-b9cfc06f50c9 CLINVAR:1698736 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd8d7bea-f42a-4af6-ada9-2b05438181c1 CLINVAR:1698736 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6617f4cd-edb0-4cba-a341-f0896d223480 CLINVAR:2570630 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3926e02d-9666-43cb-ab85-b43ff0a6cb48 CLINVAR:2570630 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c4b7b44-b59e-42af-9d46-252b621dc8a3 CLINVAR:2570631 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f7f8f78-771c-4b7b-9953-8472841de3ca CLINVAR:2570631 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f538c196-4dbf-4781-ac17-d302198e831f CLINVAR:2570632 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20149be1-cbbf-4367-b06b-9cb1f1c5f975 CLINVAR:2570632 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8145d3-a16e-47f7-9b0f-d1d0f4235192 CLINVAR:2570633 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f8856b8-36ed-46ae-ada6-3f41f853c557 CLINVAR:2570633 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1e510a-635b-4a90-9e5a-c7f5f3ddca03 CLINVAR:2570620 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 148260dc-ac95-465e-99f0-3f1920cc9e79 CLINVAR:2570620 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d93de37-8e9c-4a13-9cf9-c276c78934e4 CLINVAR:2570621 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 370470fc-a9e7-45ec-8270-66c8fe814cc3 CLINVAR:2570621 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e2e839d-bf12-42b6-a983-d0a07d24cc44 CLINVAR:2570622 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdd52544-4fb3-4da0-89c4-c59a733e9d3d CLINVAR:2570622 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde2ff46-aa19-429e-a14b-447e76fd42c8 CLINVAR:2570623 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22c287ce-e1d9-4470-a7cd-3adde201982c CLINVAR:2570623 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b5f8bd-3e5f-4495-98d5-6f90aa4e3e04 CLINVAR:625855 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa90341f-8bae-49b2-9634-4d6c1571a42c CLINVAR:625855 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce0be1da-550c-4911-8e25-e7d7c4e3a801 CLINVAR:2570624 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d69a4e44-d22c-4480-b949-27d317763bf6 CLINVAR:2570624 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98e419f8-1176-479a-a94d-7b36202c8b9f CLINVAR:2570625 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8a173ae-724d-4ef1-a267-146ae5feca73 CLINVAR:2570625 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4cdec32-8d48-40f5-addb-9250a5466dab CLINVAR:2570626 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 074529fa-5eca-4d2e-a937-23ad8eb1768b CLINVAR:2570626 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f5e60fa-358d-46a5-bc5e-10f348f2ecb6 CLINVAR:2570627 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8abb7c92-6504-49f9-9fd3-1c5011217396 CLINVAR:2570627 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbfeba7b-d0ac-4a7f-9421-908de9dc8890 CLINVAR:21077 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 663f9206-1773-4b5b-abdf-6da866dc698b CLINVAR:21077 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c161ca39-f907-4394-9dca-74ffb265b6b9 CLINVAR:2169517 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f505ace-c08c-4812-9528-734589682bc3 CLINVAR:2169517 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4d0322b-8283-4954-8caa-a791bbb827de CLINVAR:1522625 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19fb404c-aa6b-4289-9776-d9d9e64a6d1f CLINVAR:1522625 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3618d664-6ac9-449f-80d4-d479cadf141e CLINVAR:2574162 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42e323bb-5a4c-4e1c-9f3a-6bcea62ef5a3 CLINVAR:2574162 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb966597-2559-40f0-b840-0d03fb328011 CLINVAR:585909 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21859354-8ee1-421f-9479-3778838ff018 CLINVAR:585909 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48109046-0ef0-44b9-8fea-f1defb6c1c34 CLINVAR:1256304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d74ad096-1a86-41e8-8f85-445846e87238 CLINVAR:1256304 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc329086-e199-4f1b-8917-c0388aa39416 CLINVAR:447384 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 665f3b04-abcf-461b-af6f-b49ac3f9c252 CLINVAR:447384 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5630e2d1-5d09-4404-9e88-e15226377dbd CLINVAR:36178 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dde239e8-67d8-4c48-9dfe-a4bc806adaea CLINVAR:36178 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 126afa95-38f3-4920-a066-7d14392522ae CAID:CA367398764 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 336a0f12-3265-448d-8c2f-a54feaa5091b CAID:CA367398764 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d3a6ada-4eb1-46b8-b13a-e02abc7b5805 CLINVAR:36177 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abf8414c-63a1-440a-a9b6-0645c548fbd4 CLINVAR:36177 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba768bc8-41de-4d06-b5f5-16d8921d49d1 CLINVAR:447382 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62bbfb43-acf8-4e74-9408-39a7a4144821 CLINVAR:447382 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37757178-15ed-432e-8553-138b531cc5d6 CLINVAR:804832 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11118832-65a4-4fa4-86c5-a08e9d673644 CLINVAR:804832 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62e72873-ad92-4a08-83a6-84d00810e35a CLINVAR:280955 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38135644-dd4c-444f-97f3-516f7701795f CLINVAR:280955 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e8590c0-82fe-400d-a305-f5f66716ed8d CLINVAR:638014 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a377c3ab-45e0-49a8-8051-28c67212e7b0 CLINVAR:638014 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da89af17-b992-45f1-9c57-e709ef94594b CLINVAR:960182 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e1cbee8-cc19-448f-9ff0-1e85cad0f4f7 CLINVAR:960182 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba7c659d-4a03-470b-963b-b43609152bea CLINVAR:2573146 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be2cd860-a283-4a9a-9fa3-5b68ab43555c CLINVAR:2573146 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ffa8493-dd23-4bb7-96d4-162368e531c1 CLINVAR:1513387 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 133ccc05-dbed-4c93-804a-bbcaa4b93b8b CLINVAR:1513387 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52354004-79a5-49cd-bc63-963db9f57275 CLINVAR:483420 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2fd2d91-b36e-4f14-aa0a-a93b2c05ec1b CLINVAR:483420 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe2f2e3-d21a-440c-b979-c693d31fc5a0 CLINVAR:412149 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 045870f9-45f6-47d5-8d51-b32b63ee0ca1 CLINVAR:412149 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20d4ce80-a521-4fce-b9c7-d28d948228db CLINVAR:825706 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6640dac-81da-4813-b350-4d076831265d CLINVAR:825706 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2359aa-6947-40bc-a6b6-e56ef288439c CLINVAR:825692 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 139325b3-cfdf-44ed-a43e-808543236b1f CLINVAR:825692 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dd07d68-2ed1-401f-b4a3-eca93da02cf8 CLINVAR:485537 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fbdf157-b92e-4fe6-a404-659b57b503d0 CLINVAR:485537 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1629ee07-1a4b-4fcd-bc90-9a7a496c38aa CLINVAR:825630 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cbb350f-dc6c-4f55-b936-6b6cef0532d5 CLINVAR:825630 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed6e2c9-75b9-4cf2-bbde-daf89da32039 CLINVAR:483441 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 837c24a8-ce00-48b6-aa9b-9dfe38381a5c CLINVAR:483441 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e7df644-14b6-4527-82b7-f461cc5cd71c CLINVAR:477252 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 106cb255-cd4f-4f27-8a95-084d3d107399 CLINVAR:477252 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb896ad-a6d2-47fa-ac99-5510a0ed911e CLINVAR:804344 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2e318dc-7340-4956-9c87-d94838a19d0d CLINVAR:804344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c71676-5b5f-4590-9509-b495345ac174 CLINVAR:426122 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9791acb9-8dda-4d97-9b8e-687eedcaa276 CLINVAR:426122 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08839787-25ab-4ffb-9f38-4fc5227e722f CLINVAR:553638 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0585f398-fc46-4d25-b770-4300f0e49bc5 CLINVAR:553638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c2ff238-23ac-4fec-a1ec-e3d2b9ea1dea CLINVAR:102594 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72b48e43-632f-432f-80f0-02b45d828bd1 CLINVAR:102594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 326540c1-1dd2-44dd-8647-09c2d31b8b3d CLINVAR:102765 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8392665e-7e5b-4b16-b799-d13ed5ff00bf CLINVAR:102765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 221582c1-f5b1-425c-b0f6-f719ed383b9f CLINVAR:102903 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 001d42f5-328e-4c18-85b5-1eb27fe707bf CLINVAR:102903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b040641-6634-445e-b021-f469315fab5a CLINVAR:102503 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10140b8f-a85e-4aa5-ada3-f42867593483 CLINVAR:102503 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac82c69-4af7-4f29-9e6f-d449f315cc8a CLINVAR:552806 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a1fbd06-54de-4845-ae9b-7323bea4f0fb CLINVAR:552806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02f78243-4f79-44fc-be79-1e87b090ecfc CLINVAR:725756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cd644c6-6d2d-4aed-af73-3eb19fdd5441 CLINVAR:725756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acb0fc35-2dd0-4892-bb5d-3cc47644897a CLINVAR:733267 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a436551-0497-47d9-9f32-f6e78cc9d6dc CLINVAR:733267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28bf033f-03ff-4006-b41b-d222b819d52d CLINVAR:755030 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75f7cc02-b4ce-4921-962a-4833833405d1 CLINVAR:755030 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a25a1e1-7e4c-4b41-9d5b-a8a8ce514874 CLINVAR:760907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcdc941d-6bc0-430e-a2b2-0e86522cf322 CLINVAR:760907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c640a3e-8bc4-4126-8505-650d743d1020 CLINVAR:883189 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53cccd27-3778-4460-ad4c-8b70b4529525 CLINVAR:883189 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca6d658-7116-4faa-ad93-1956d3bfc8a3 CLINVAR:991620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 082e2997-ddd3-4cc8-a0f3-2a1e6773b769 CLINVAR:991620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d68eaae5-fb03-4a50-9d95-27196db5b292 CLINVAR:991623 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fbf12df-6891-49f8-81a9-86832f643dc2 CLINVAR:991623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf5c65b-96c5-41ec-ae8a-fc5c991b6d56 CLINVAR:991624 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0812c3ff-c379-4968-9651-8947479e8324 CLINVAR:991624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8994bfc2-8e2f-47c3-961f-ee017da818ff CLINVAR:991626 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f63b8c2e-4785-49e3-8b48-41f99702f36b CLINVAR:991626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6919238-33e3-4bf3-9957-bc3c65def413 CLINVAR:251525 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91022462-f84a-4bb1-94ae-ddeb4b71b650 CLINVAR:251525 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f065fe7-7a8e-4198-a97b-5b33307262d2 CLINVAR:441199 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6475b8f-a13c-471e-aeb5-373631540a23 CLINVAR:441199 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 383ce873-fcff-4534-8de2-231e5bf0f620 CLINVAR:251526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 443cb0ca-e5af-47b6-b543-55375826042e CLINVAR:251526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c668bc6a-e21d-49a2-bcb2-6ff69a8d850a CLINVAR:523725 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 561efcf3-d272-411a-b766-e8da7a543b9e CLINVAR:523725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 196892ca-94ce-4b1f-87d2-39f8ac10a3c1 CLINVAR:251527 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdbebb5f-4ceb-42cf-9db9-2c739edc050f CLINVAR:251527 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8692eda6-9bf8-469b-8eff-e599f9f20498 CAID:CA367401753 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22cbf720-4ac0-47c3-ade5-527ff39c4f74 CAID:CA367401753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc80ec23-c4d7-4012-a5ed-c08a9372fead CAID:CA367401755 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b54bf93-468f-48cd-b921-3cc37d17f44f CAID:CA367401755 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76022559-f950-42dd-a73d-dc47c7a6abb7 CAID:CA2573102979 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc8cd14c-7788-4a04-9aa6-eb70c8977879 CAID:CA2573102979 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5e66a2-5d01-458b-a826-cf8580244fed CAID:CA367396876 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a75e3da-3575-46a4-a8db-ccf811698148 CAID:CA367396876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ffb768-8bd8-45c6-813a-53eb9d851c03 CAID:CA367397326 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8dfcb615-c59b-407b-8d71-fab7d0fbc1e3 CAID:CA367397326 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 994a31c5-6272-45c6-9b4b-2ea38964e7b7 CLINVAR:447412 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d268b76b-6e00-44c3-ab0d-f9a02cf934fe CLINVAR:447412 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a513e6af-0022-4de3-a51f-cf05b7a02ec7 CLINVAR:16141 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 169cb5cb-8687-443c-87fe-c8dd058a0b89 CLINVAR:16141 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1f13c7e-34a3-492f-a709-9adc57bf22d6 CLINVAR:36236 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d900d09f-0a78-4d89-86d4-d617f3091117 CLINVAR:36236 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34472407-1f8e-4a58-bc9e-da46b9d16804 CLINVAR:129143 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de751fa7-ba01-47aa-8f5d-4a135ede5c21 CLINVAR:129143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61c52915-5575-4465-a1ff-7c254a57dfaa CAID:CA2017997770 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77c80406-dd91-47b1-ad31-6a4a87e68615 CAID:CA2017997770 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e27853-5ce1-4ed2-8b5d-65e90490c7c6 CLINVAR:804835 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7578f402-07c9-4fcd-aa81-9c382714b0af CLINVAR:804835 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07aaf46c-37fd-4ec5-a5c3-56e2be8ccef3 CLINVAR:1732973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b20dfcfb-4954-443a-95d1-36fd10e62abe CLINVAR:1732973 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 202c5dd8-eb1c-4ef7-8f2c-a29a17a3348b CLINVAR:2574164 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b03dfc2-056b-4648-9bd2-ef6d2757c00b CLINVAR:2574164 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce357844-9d31-443b-9dad-a365e0987625 CAID:CA386965806 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3976258-d533-4bbb-b165-637bda60c3aa CAID:CA386965806 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10b1e142-a56c-40cc-b001-7d7b89a125f1 CAID:CA386969831 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e933c015-71f5-4901-8e03-bfb79518a318 CAID:CA386969831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c0518b-4a67-4d50-89ec-b612b21c338a CAID:CA386969829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68615c1b-cfed-4f91-8643-70466f93a806 CAID:CA386969829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e5aeeaf-a43c-4bd1-8d4b-b8ad1b603472 CAID:CA386969822 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24948e72-3789-4168-92fb-806320cd91f3 CAID:CA386969822 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfa9644b-e26f-488d-9374-29191da6a9e3 CAID:CA386970356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aab854df-eb87-46bc-86c9-3ee9802012a4 CAID:CA386970356 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d42fbd-3997-4711-ab7e-42f58fa5224a CAID:CA409106019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 068ea792-ff4f-4ea3-8e5b-6711e0fe1ad4 CAID:CA409106019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd15021-911e-4792-b89a-fe88acd9f9fe CLINVAR:1744896 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bff524b5-514c-400c-b3b3-fc4170ee9300 CLINVAR:1744896 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78daa46c-058d-4c12-9560-b346a5d7ca79 CAID:CA409107443 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1de00afb-72a4-4c32-ac33-73f39c82a04d CAID:CA409107443 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99b7e45-d006-4244-bcf9-032630a3cdbd CAID:CA2573106200 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd68eca1-ae76-4fdc-b775-55e38d037b06 CAID:CA2573106200 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5340e5e-3c01-4cf7-ac72-ebfb7b5df56e CAID:CA409108146 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 067ccce9-7734-406c-8284-58a47792e5e6 CAID:CA409108146 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1496eee9-05dd-4a94-bbcb-f1f91192e6a3 CLINVAR:585923 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75ca5bc8-f6e8-479e-9609-07462d6328ff CLINVAR:585923 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 324df161-da57-462a-96f8-6bc6c81a1961 CLINVAR:804834 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a905b44-2b0a-4129-9037-5079a74ead6b CLINVAR:804834 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19eba9fa-7983-4b3a-840b-ff8404bf72da CLINVAR:481178 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21d3bb2d-0121-49b5-afe2-4ea7a10f67a7 CLINVAR:481178 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1227c7de-b10a-428b-abac-bd2ed47b0e09 CLINVAR:532446 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8074de3-484d-43f4-ac92-573982d491bf CLINVAR:532446 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ba9693-bae2-4f15-9c76-97b92ea90706 CLINVAR:692767 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01d14a9a-d2b5-47b1-a8e6-ad549bbac4c0 CLINVAR:692767 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0af58c7e-f7b9-42a0-be92-6e8feb0003e2 CLINVAR:228859 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8558e62e-7898-44c9-875b-3488a7e26bba CLINVAR:228859 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49f8ada7-b915-4e27-8c83-1329fac2c76f CLINVAR:489846 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00bc41e4-4023-4afe-bf2f-de206a0f2e9e CLINVAR:489846 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2249a3af-95ab-424e-a148-70b9acbc4fc8 CLINVAR:230669 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d40d3b5a-cfc6-47c0-a35f-ee28af7cf371 CLINVAR:230669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d7db10c-824a-454b-8da5-66b36b9a6748 CLINVAR:481700 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a156506-ddd4-47e7-84f4-c2ce62e30b83 CLINVAR:481700 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9672c5ae-c334-4de3-a388-845358eabf97 CLINVAR:481692 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06c8504c-32a4-4148-850d-f3b265fc42d8 CLINVAR:481692 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 171634db-5302-4fa5-91c3-144537d506b6 CLINVAR:483261 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf18682a-4dad-45c8-b51a-929314fb1fa2 CLINVAR:483261 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e05c48b2-a76b-43c0-b258-c84fdf4a6774 CLINVAR:584516 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b70db1c4-256e-422f-a78c-087ce4672dd3 CLINVAR:584516 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3cf4d45-d848-4f08-b7c7-00bd63534bd2 CLINVAR:220445 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32eaa73f-f3e0-46f8-85c0-6814613e24c3 CLINVAR:220445 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6984dea0-81db-4f43-be27-2759a7ead577 CLINVAR:235370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f793eda6-2354-473c-b62d-05c7e52a80c6 CLINVAR:235370 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a105aae-8d2a-405f-b9d8-cd05b6c18ec4 CLINVAR:377369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cd5a672-360d-4c8f-9cbb-7365b14a9989 CLINVAR:377369 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ae844d3-e6f9-4cd5-99f3-caf9d3a44b05 CLINVAR:439912 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 204c1a70-8822-402c-ba2b-75454b82e723 CLINVAR:439912 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5387f735-63be-4bda-88a2-1029b3d4622c CLINVAR:428630 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b67510c3-6da7-4e28-9bf0-ceafc2d20b0a CLINVAR:428630 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d442d1ad-5769-440d-af21-b2abe74b3b80 CLINVAR:185005 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84d6f006-237d-49e4-b51c-2db1109d2c89 CLINVAR:185005 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 290ff394-fcd3-4f6c-bd60-f363559051ce CLINVAR:921477 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03374337-3b75-411e-b12d-745e091e5117 CLINVAR:921477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03640935-0851-4511-8e35-35ddf7fb6a8f CLINVAR:428619 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76ce3698-050c-4a7b-8157-2174ac0749ff CLINVAR:428619 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f73e26e0-308c-44a4-9aa1-900a396dbf79 CAID:CA2229914895 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 309bc2bf-3944-4ab0-b95e-344db8ba136d CAID:CA2229914895 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aaa1f45-b0fd-439e-9ad4-6fcb3534c2ba CLINVAR:21076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d87b7c3-eeb3-4adc-83d4-ea5a8e7379d7 CLINVAR:21076 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01058c67-5d93-42e3-936c-6fee06b3860c CLINVAR:16145 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54cbef30-d74b-45a5-8110-d3b160da95c5 CLINVAR:16145 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 194fb4de-b10f-4ab3-9c47-1f6b65f52244 CLINVAR:972776 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ee8f9e2-02cd-4308-a3ab-6a283119d12a CLINVAR:972776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0326268-5061-460d-a31f-82ebc5b578a7 CLINVAR:2575092 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d67506b-7b95-4733-bf82-ec51467691b2 CLINVAR:2575092 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa47dff-ecff-41c4-8d70-018638911d81 CLINVAR:7953 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9853c356-d8ef-4d1a-add7-bdf6b92f863e CLINVAR:7953 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63124178-6df1-4769-963b-0bd42890bdbc CLINVAR:2575096 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14056ac2-c472-4435-a173-7f0259e4ed85 CLINVAR:2575096 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a37034-6eba-431e-a47e-47f7cbb0c2fc CLINVAR:2575097 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f9438a2-50be-4260-95fb-a48ad787c4a4 CLINVAR:2575097 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc9fc70d-edf3-474b-a066-d9b550e06109 CLINVAR:2575098 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53e573b0-7584-48fc-8544-c74ef62ebf08 CLINVAR:2575098 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05cc5eb7-fead-4ac4-9720-5d7982ceeb4b CLINVAR:2575099 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d978fd58-3f18-4488-a6d2-f40543a47cc7 CLINVAR:2575099 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a050933-026a-4886-baf5-c45657cd5d90 CLINVAR:2575100 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a67fee4-7e40-44bc-90d1-557c0bda460a CLINVAR:2575100 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc91416c-527c-45e4-a3ca-3097744a27fd CLINVAR:2575101 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98b767a7-54f3-4159-bc3c-78859123a18c CLINVAR:2575101 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32cc730d-f637-4d14-898c-0ab14abcd28f CLINVAR:2575093 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d84ecf0-b99a-4fdb-9e4c-ca8dbe6a73c5 CLINVAR:2575093 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7310d0d-0de9-4eb1-ae1e-12aa8f758027 CLINVAR:293722 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c4c5666-9087-43ea-9c46-64941193e456 CLINVAR:293722 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86bcd3c0-a9c2-4ce3-9bc3-1882e109af04 CLINVAR:293720 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57c25e28-ff6c-44aa-ba7e-018d8287b562 CLINVAR:293720 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9d14c5-7169-4cd2-b34c-8d85626c618c CLINVAR:293719 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35b4096b-fe49-4050-a5da-6d44d38160e3 CLINVAR:293719 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd8b89d3-6121-465c-a673-4caf713f2639 CLINVAR:875954 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adf24f67-a6d3-4a45-bd89-c73a3deb47ad CLINVAR:875954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2553e131-3ba6-4662-abb0-9142c4e4deec CLINVAR:293721 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a86662a-57f1-43e6-88b3-3f007150e601 CLINVAR:293721 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ddaa13-6441-4182-810d-08b7bd5bc3d9 CLINVAR:876999 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1209104-931f-404f-875e-024e915d142b CLINVAR:876999 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba49f7e-b655-4c69-9063-59593fc1944a CLINVAR:293714 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ec79e1d-075c-48b3-a572-9ab7e216c050 CLINVAR:293714 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47691ba3-5c36-442b-b881-42d0b9b995ac CLINVAR:252960 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5436c6ab-dca6-4f0a-a017-2f597880091c CLINVAR:252960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 978b479e-be86-468a-9b68-5ce93a915780 CLINVAR:293713 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb6672a7-9828-4550-8c63-9d7c40b89b15 CLINVAR:293713 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3c284e5-1384-47f2-b769-b02a023ef22c CLINVAR:242274 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b903f23-f3be-4280-bbd3-bee04ba30d48 CLINVAR:242274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c1e7050-22ef-4ffc-a806-8a8993acb1eb CLINVAR:1324770 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9b90279-b087-4c72-b008-d0f861334cf8 CLINVAR:1324770 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d921a36-9e49-48a3-9788-31c6caca80f9 CLINVAR:2575094 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b62785e2-0005-4e98-889e-396ecf22e0a9 CLINVAR:2575094 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62aebcfe-94b8-4e49-8f97-5e70e2aa3601 CLINVAR:631579 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7c5b06d-f391-48d4-afbc-119b9746fc20 CLINVAR:631579 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7717d17-18aa-462a-a695-8d6591830703 CLINVAR:585908 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c633f099-76c8-4b64-b292-1fea85f84447 CLINVAR:585908 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f065412a-ce27-4e8e-b180-932886944d46 CLINVAR:36176 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4abd0633-d246-4946-8f3e-44038ae59f1b CLINVAR:36176 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16caea8a-cbc9-4bea-a465-6a1a2ec0be71 CLINVAR:447425 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ddfed62-46c3-4918-a417-4c0b3e82734f CLINVAR:447425 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b822112-8cd9-49e3-aab8-096bcfab16b6 CLINVAR:1802685 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8b25c2a-4012-4523-83ea-7734f4fc52df CLINVAR:1802685 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c19fd38b-a365-4747-abfd-326b51b8190d CLINVAR:381598 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7f5cf18-79ea-49d0-aa42-8b804c61b306 CLINVAR:381598 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ebb8182-1c91-4714-9806-8fc7d8b13f72 CAID:CA367398947 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 724e016c-4155-4866-84fd-d86ff23e5710 CAID:CA367398947 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 411227b8-f048-4b83-91ec-9eab79c2918b CAID:CA367398935 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37ddaf99-e74b-4d74-85e8-ebccbaf70a31 CAID:CA367398935 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b49e3bcf-d365-40e2-bfea-37ffcaac6fb5 CLINVAR:447379 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef584901-9e7c-4156-ba61-a66c0063e804 CLINVAR:447379 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f171b97-2e6f-428d-a024-e1e8400dd818 CLINVAR:129140 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d2d59f5-bbcb-456b-9f69-530f2339dcdc CLINVAR:129140 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce6ac9af-5a4b-4e89-a501-42dfb9ec5820 CLINVAR:617645 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0dd38dc-486e-4d8a-9cd6-f05e3293b689 CLINVAR:617645 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de9c40a7-bea8-40d5-8f2b-ac7f1c580374 CAID:CA367398869 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 253af5f7-e0fd-475c-97ee-1b108e2c5137 CAID:CA367398869 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8149916b-897f-4946-a8aa-b88acf07aa84 CLINVAR:2578349 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23fb1f70-3ceb-4af0-a17d-f1e2fe891601 CLINVAR:2578349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c96a95ee-0724-442c-96f6-ba10de6b7185 CAID:CA367396716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06e44d63-4ffc-49d0-a18c-9a2913f745a0 CAID:CA367396716 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720579fc-7269-485a-8179-d67747314c02 CAID:CA367396721 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8dfb84f8-2529-4d78-bd6d-2723771410f3 CAID:CA367396721 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a892cc-b55c-4e1c-a3ed-5d235a4bd560 CLINVAR:447423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e0c2181-97f3-41f6-b489-5475f058e854 CLINVAR:447423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c26b68f6-138b-442e-8650-ef678f60466b CAID:CA367400134 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64444458-a815-4498-8f06-86cec5a8cd31 CAID:CA367400134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a05819cd-a31f-49d4-82c5-1549fe57acc2 CLINVAR:1436793 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13e1981f-123a-48fd-a468-53aeddd011bd CLINVAR:1436793 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6947765-14bc-40f5-be13-dbd12e196440 CLINVAR:16135 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8f1a9a1-e3e7-45fd-ba55-14ed47304de8 CLINVAR:16135 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b0f0c4b-dbb0-4cbf-82ba-f005f3b301ba CAID:CA367400569 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 755a5a0b-235c-427a-8dea-d1f3355acc87 CAID:CA367400569 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2718500e-4a69-40ec-adb7-6e235de46c00 CLINVAR:447418 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38403b5c-d717-4828-9c51-76cfb66d7b5d CLINVAR:447418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 403f745e-08e5-4054-a0b9-68bc83691e5c CLINVAR:435302 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9dfb8ad1-12dd-48f1-8b6c-d8968657e002 CLINVAR:435302 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25588508-ce0f-4c45-9032-e7667960667f CLINVAR:447417 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4c77336-3cd1-45d1-929a-e93a87f899ef CLINVAR:447417 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6781d8d-7ec1-4792-bb54-506a90849f89 CAID:CA367400582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be3654fb-d758-4862-9575-f461c9f24f3c CAID:CA367400582 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb6679e-f1d5-445f-bad7-96b743b1ebcf CLINVAR:36243 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20ba0321-e2b2-4949-b0bb-133af328a435 CLINVAR:36243 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9377002-f64e-43d0-ab43-35af4a546ad4 CAID:CA367401977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eafc93d2-9fdc-448a-8edc-def3c99e29ee CAID:CA367401977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07bc0c6e-b1d0-4bbb-b4b7-d5a36391649f CLINVAR:2428681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a24de9f-5fb0-4476-888a-a0c130833162 CLINVAR:2428681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2221ae47-acae-4286-b912-f4f4c5053327 CLINVAR:36209 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68064d2d-4356-41eb-9d46-dc972f579f3e CLINVAR:36209 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 358b3b9c-8770-41b0-91a9-018f280b8651 CLINVAR:36204 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 814cbe2a-ea40-455c-b088-22eab90521a3 CLINVAR:36204 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b503d462-6660-4244-8c63-398e11e0ba8d CLINVAR:585911 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5774cc2-1ed0-48d0-bb8e-7daf960316dc CLINVAR:585911 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f3ea9c9-a40f-4bab-a274-328c3a791608 CAID:CA2497028745 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f36413b-03b2-4d6f-922f-a9aa1a681ed5 CAID:CA2497028745 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e9a6f0a-9e85-4b17-ac1d-c3002b946c68 CLINVAR:994902 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bf3693d-3eda-4409-9e5f-0af13b8ededd CLINVAR:994902 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68abcdf5-2359-42d2-8431-b362f1d63baf CAID:CA2573106198 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dde5be9-eb46-4351-b8eb-812067b9c56e CAID:CA2573106198 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e657cd36-b6b4-4641-a96a-4042f4e8a5b4 CAID:CA409106116 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ee6d730-47eb-4d1b-9226-e1993568a72b CAID:CA409106116 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d3128e-c7b2-427a-9ac6-d1fa8d9dcc9e CAID:CA409106207 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ac6feee-2ff8-4376-af0f-b5afbb56557e CAID:CA409106207 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ba89f9-0fa4-4c58-b60b-e5a38fe2a2ca CLINVAR:1756327 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2bf15c2-9466-4fad-9933-b124ccdc74d4 CLINVAR:1756327 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 026d953d-5f92-4192-8566-32849fd9b403 CLINVAR:972818 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5db1b12-98f1-43ed-86e3-0688cb1cae9d CLINVAR:972818 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b57adeb-7e88-4051-a7bf-881eade8d143 CLINVAR:1675516 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afb21c93-a783-43a0-a17f-e69944b72afb CLINVAR:1675516 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c0fb150-8d50-49b2-8bd9-04561ce19f23 CLINVAR:751827 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8435d1fd-6f00-4065-95df-02afd9a49933 CLINVAR:751827 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76f51a9a-f507-46c2-950f-f47e09922f4d CAID:CA915940958 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 282cca72-a908-4f9b-80a8-2f4235e5592f CAID:CA915940958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8089487-3bc3-4d8f-a0e9-1e33c3fb4b3d CLINVAR:323548 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25e86589-bdd3-4610-a2d1-0087a0f57ba6 CLINVAR:323548 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 647adaa4-bc76-40c5-a3a9-342d1d1b99ab CAID:CA399801096 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06d23556-0777-4eaa-9b88-015e02a9f93b CAID:CA399801096 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e912dfb-f1c2-45ed-ad7e-a0cc6de1c898 CLINVAR:888905 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29a53ae1-90f4-40da-8598-e440eef8c3fa CLINVAR:888905 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05587258-7638-4031-bf0f-716a322fc6dc CLINVAR:323571 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 334247df-04e7-48a4-8e14-400690e1f3c0 CLINVAR:323571 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6134a5d-d636-4ab2-862b-e56067d5b40c CLINVAR:2578344 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f01c47ba-d0cf-4ad3-92f9-e32e2afc65d4 CLINVAR:2578344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 510cd90f-4323-49ea-99a5-75aa71cdff41 CAID:CA409103809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdd12f28-b413-4d7b-89f1-8cb15a8cb427 CAID:CA409103809 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14ecbf9c-ad51-4a5a-b4f3-be3f53b91ab5 CLINVAR:422466 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd7f4982-1496-4b78-bf9e-aed9225bc297 CLINVAR:422466 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad58abc7-b3f2-491b-982c-236d6b7d2e0e CAID:CA367403541 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69500fc1-bd3e-4610-b636-0a9ad54947a5 CAID:CA367403541 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff3c9e78-946a-4f4d-8882-7be6a723735b CLINVAR:393453 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 508a1cdc-ef77-4f58-b9d1-1fcd7ca86adb CLINVAR:393453 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dfcf7f5-966d-4c7c-a25c-9eb6f15c087e CLINVAR:419624 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65f9c499-3030-4ef6-b04f-1fc2266255c6 CLINVAR:419624 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc33dc1-9bbf-4d84-982e-520fbc1f6bc6 CAID:CA2573105963 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c5c6fa6-c90e-452a-8c76-bdddd5a813d4 CAID:CA2573105963 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3d05e8-4038-4b7f-9acb-d03f9e2011d6 CLINVAR:447388 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ee1d343-440a-4caa-8e2e-1388d5a4107e CLINVAR:447388 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f690472-e7fc-499a-b5ba-274f997b4777 CLINVAR:2578359 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d04241b-2c56-45e9-8097-4f3f1a8aa2f6 CLINVAR:2578359 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8cdf7dd-0039-4bcc-89bc-174a950ffed9 CLINVAR:1301416 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e39fe4e-6a55-4d80-abb8-418feb21f4ba CLINVAR:1301416 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 394daa68-c6f1-4109-8f93-eec53fd05fc6 CAID:CA2573051052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44ca956e-72b5-4941-989d-5b27946dbfe2 CAID:CA2573051052 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0f83443-c610-4fce-9e09-493e60921a2f CLINVAR:36201 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5aa7944a-8445-4607-8e06-44a4c02bf6ea CLINVAR:36201 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f65cff0-2810-4878-a842-7f06ac232835 CAID:CA2573102980 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0dc0170-4bf1-4a19-b867-37831fdbc33a CAID:CA2573102980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e5d62f7-d2da-422d-a4f1-99d4bb55efb3 CLINVAR:1365679 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64d429f0-7be1-42c4-8ba6-eaa1d96f7346 CLINVAR:1365679 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 303a1129-ac8d-4a9c-b545-d93886e4a43b CAID:CA2017997777 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cda13f9b-b937-404b-8cf6-003e0a14de9d CAID:CA2017997777 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe62014-d685-455b-80f8-38845cbb11aa CLINVAR:585915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acec2631-ec3a-42ca-a020-9809f8ff2534 CLINVAR:585915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78a4eecf-3106-44a0-9e7c-4c4f9d9b4981 CLINVAR:1799350 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a936a635-5d51-40ec-b60f-4e4f799a9125 CLINVAR:1799350 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7799795-252d-4981-a55c-738f022b0210 CLINVAR:289356 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d091e736-e6a4-42b0-8de1-1ee74e136efa CLINVAR:289356 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 846a2f60-b9e2-44ea-a4f8-8af4a92052eb CLINVAR:286228 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83b9dc2a-7a42-4e13-8778-996f64a241eb CLINVAR:286228 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7585aded-d19c-4807-9b19-0f3ef01b9e03 CAID:CA400025655 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc0313f9-52ca-4d59-887a-6c0e055cb169 CAID:CA400025655 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16b196d9-b93b-4b63-81a2-39ddf09a5d13 CLINVAR:2581084 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen febd9a50-5b7b-46fe-a555-34c2d66b7026 CLINVAR:2581084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57424618-65d8-4fa7-81c7-a5f2279188f2 CAID:CA367397019 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7779121b-9a6c-4a62-bd9a-998f9d6aab21 CAID:CA367397019 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ceabc73-a609-4047-8c5f-26a1f52d885b CAID:CA2573106066 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a7d261a-67aa-4b23-87f8-561cd3840da7 CAID:CA2573106066 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e05ad3-f976-4153-910e-a956ee73d99d CLINVAR:1769182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40f451c9-3866-4d7c-b0c7-dc3682eff15f CLINVAR:1769182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a79cb5cb-e9ad-49d6-871b-eb3a3816aa4e CAID:CA367398252 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 712497cd-b94a-4eaa-acf2-0f4566e6557c CAID:CA367398252 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d69513bd-ebbd-48e7-9300-f4d1ce51853d CLINVAR:995102 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4bfbf134-5e58-4cf0-99db-e1e781a7a202 CLINVAR:995102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b806ddc-b886-43e2-a704-87c35ab2167d CAID:CA4239418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dce57ff-bb11-4134-a4db-a4e1de5d643d CAID:CA4239418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 311914fe-862b-4a3e-999a-5c096f86a7fc CLINVAR:447383 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e18ef75-3bbd-4363-9ab2-cd62622b097e CLINVAR:447383 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10df4af-35d7-442f-bcbc-b0d8537e39a6 CLINVAR:617652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa8edd18-a939-4e75-8ded-71f447615a7e CLINVAR:617652 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 085810ce-67b6-4880-aded-e5a8d169e608 CAID:CA315411422 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9072428d-a10c-4b7f-8278-63bfd59531fd CAID:CA315411422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06295cab-be30-40e7-a541-13b807bb777d CLINVAR:1098819 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e275bac-f02d-4447-a6c4-c9396c49aac3 CLINVAR:1098819 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a2d0d0-45e2-4961-b95b-b49115bda303 CLINVAR:1299752 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6923da3d-7e7d-42c3-8d7e-59d429cc7d3f CLINVAR:1299752 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a94813f-f694-43bf-8f23-ff503483e361 CAID:CA386966083 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 265f4585-7525-4afc-97bc-10ce2515860f CAID:CA386966083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e871a35d-9c53-492e-b547-e2ec103d2e9f CAID:CA386966081 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1d59d3e-5244-4d1e-b8b4-46bdc878234d CAID:CA386966081 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de47c545-21d0-46a8-8741-03e77c3b4b8e CLINVAR:2581122 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e1e40fa-820a-44c4-82c7-1187a8142da9 CLINVAR:2581122 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9f07bb-006c-402f-b930-34268baa22db CAID:CA386959080 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c5c766e-d24f-47c0-a273-7495bb615fa6 CAID:CA386959080 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e3feaf4-0911-4218-b8b9-155802993a3e CAID:CA2580610925 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4581fba-b7ac-484a-97f7-03a1a0949c8d CAID:CA2580610925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5617a6cd-2c14-404a-9eee-97a4a74ec727 CLINVAR:36185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12ddd370-75a3-4d49-8f4a-9c372532fbd7 CLINVAR:36185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f426093e-d101-4eeb-ad2e-23b27dc0f92b CAID:CA367398753 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d47bbf1-072d-4864-8898-2edecfe62ca9 CAID:CA367398753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3758d729-8c29-444b-bd87-31fe3debd27c CLINVAR:1727652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2636b75d-2707-4f55-9453-120316ea51c6 CLINVAR:1727652 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31a5f78-6da3-4885-b6eb-45320e587ac7 CLINVAR:435310 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd39667b-716b-48cb-917d-0214d98c48b6 CLINVAR:435310 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb897f77-eaab-4cd0-8a98-eaaecc732a5c CLINVAR:2581126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 169b2de0-ef13-4e02-b091-4de549c5e92a CLINVAR:2581126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b23cdf97-8197-440e-8f41-3c0b90da3eef CLINVAR:585927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d08e0a9-3388-4136-a1b5-b1c7e3141dcb CLINVAR:585927 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57983224-4f73-46d1-9db4-110df490dee6 CLINVAR:323566 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27cc4eb6-833b-40de-b5f5-c7bf42286eee CLINVAR:323566 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa0fef4-480b-4482-befc-cf96728914d3 CLINVAR:890600 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55655280-c610-4ef4-83bf-7ade85be6a21 CLINVAR:890600 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab557c2-0bf2-48cc-b5fc-ddd69910cac6 CAID:CA915940646 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b833781-59eb-4f00-9299-32f60a1f6e66 CAID:CA915940646 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05cf0b5a-c07e-4dfe-962f-1b69a12dbd6f CLINVAR:890135 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 290b5102-ae2b-4996-931f-25e12ebeb5d9 CLINVAR:890135 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 557d8e05-62e2-4c98-b56b-1d94e6c412e1 CAID:CA399804774 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b4fe69a-bd51-425e-bf6e-b1ddb096583b CAID:CA399804774 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5365a551-dcdf-43f7-9c7a-5f69b5b7fd6d CLINVAR:872751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4e520aa-2a23-4516-84f8-43f56d4d1a15 CLINVAR:872751 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04603d62-d94e-438c-96fc-0523d70a4f35 CLINVAR:142905 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8301ee89-5078-455a-aa03-75b4529660c9 CLINVAR:142905 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa2af324-7fe3-48dd-a5cb-549b4929535a CLINVAR:239915 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fb91cfb-a9dd-415c-8f2c-3473e27bcdfd CLINVAR:239915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 209e6eb4-a10f-41c9-83b7-e253fdb2327d CAID:CA409104369 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f92ce540-9401-468d-9878-579b8b5e22f6 CAID:CA409104369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f8120e-7469-428d-9888-301249a4fc99 CLINVAR:427034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6da61a12-6381-4c24-8d13-8225fc93a932 CLINVAR:427034 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9736b82d-10be-413d-9269-748fad27e969 CLINVAR:18019 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00eefb1f-07a3-46dc-b880-ba9cc030964f CLINVAR:18019 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e440105-7b83-4a77-8679-82cb57a2d9cf CLINVAR:627228 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09a7256f-9ed2-4f54-9789-27f3c42c5b94 CLINVAR:627228 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc78cc9-0ea1-4616-bbcf-f539d11a3464 CAID:CA1139771046 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a4eb063-5050-4838-8208-e5bb05d1ed74 CAID:CA1139771046 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd56c6a-0d80-416e-b581-0dbca4a3c93d CLINVAR:18042 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f561eec7-f4b0-48b3-8b1d-dd1e6b3ffaba CLINVAR:18042 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 565e5f13-a891-4b19-bf3d-d48eefc35780 CLINVAR:18014 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d163f87-7ea3-4323-a5db-bd18ae2fadac CLINVAR:18014 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e65f012-ad61-470c-b175-6657158afb01 CLINVAR:18034 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cde8d82b-39b6-40bc-9842-87ee600d18df CLINVAR:18034 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13964c3-4e12-4e5c-8c8e-b4da0c5a1816 CLINVAR:627161 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e86640c-ffc2-4721-a007-01517b4c5c01 CLINVAR:627161 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bd5ef1f-a71f-4c2d-b8b0-05b353f058d1 CAID:CA343774795 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebd4060b-6a02-4b4c-90c0-4123afbe90b2 CAID:CA343774795 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ef28313-abcd-4989-a577-72e5ec778d28 CLINVAR:410384 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8fdc6fa-3095-4885-8cc4-62543fc8f600 CLINVAR:410384 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f823ee7-cd7f-4d96-a69d-93731a0c6d6f CAID:CA1670972946 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e1d5171-03c2-4940-ba5d-e1ceca3eb93b CAID:CA1670972946 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5484c41-1c24-4cd7-8df0-ff04ee9e659c CLINVAR:18011 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1deb59c9-0d1c-4443-b93b-a8feec7c19da CLINVAR:18011 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d756188-5915-4282-97b5-440e8b238710 CLINVAR:447399 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3830c45-78bd-4f1e-89af-44a3514b3559 CLINVAR:447399 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecba6137-3735-417d-93c2-4909df0d441d CAID:CA367401964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9ff3362-fbf3-4c4d-b73a-73017343c9fd CAID:CA367401964 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b9bf81-760f-4613-b86e-301c639fd874 CAID:CA367401896 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a2d97de-eca5-4cf0-aa26-c4138ebe0b37 CAID:CA367401896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c2653cf-10f0-4c9b-9ebb-3c8ce653228e CAID:CA367398808 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b0aa5a3-05c4-49f3-b7cd-f5d8b24e8704 CAID:CA367398808 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ccef51-0308-41d9-b288-ea5376b5ce52 CLINVAR:447420 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee433d76-c886-480c-a2a0-0863373d1379 CLINVAR:447420 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d932ce1c-052b-44ba-85ec-7beb5434f29d CLINVAR:43519 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bcf69f2-1ab9-4546-8a6f-8d43229f3e79 CLINVAR:43519 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa5060e-515b-4ecf-adc5-380f14cbf3ce CLINVAR:37404 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen beb46177-4396-4854-8748-f1050e2e90ef CLINVAR:37404 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5b66b62-ddd6-4f3d-ad51-f81f07413c1e CLINVAR:17662 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9abacbe-f516-4858-8375-d426cdd2efb3 CLINVAR:17662 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d47283cc-d542-48e0-9721-8d1e990c6ec8 CLINVAR:52430 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a63640b4-990e-4f70-af7f-dd1b5bad3e72 CLINVAR:52430 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d13080d9-9dda-46e2-93ba-e5bfb2b152b6 CLINVAR:37635 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98e757af-b5c4-4e2c-900a-450842025040 CLINVAR:37635 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 639ea6fb-61ba-4d2e-9b97-365459df8be3 CLINVAR:55451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ada8c8b0-a59e-4013-a598-3d7d6d0cdfcb CLINVAR:55451 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a6c4843-8140-4bd9-b043-90bb40bbf63a CLINVAR:38132 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45d8754f-3f19-4ba5-b9ac-13cd7d515f54 CLINVAR:38132 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86885b3a-2bc3-4633-bed8-b251d2162ecb CLINVAR:246362 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9be8c23c-17bc-487f-9d5f-905e7359b3f1 CLINVAR:246362 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b68a6294-cdad-4178-8ba7-8508b4a203be CLINVAR:52475 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d47c6c47-3c3d-408e-b297-77be92f6b7c8 CLINVAR:52475 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e204f8b3-869f-48bd-93c8-63af0f76ead1 CLINVAR:54400 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df9e8852-9bf8-4318-a0fc-213eafdf2a71 CLINVAR:54400 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 332dd877-29a8-47a8-8810-a52151f19b80 CLINVAR:54467 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc2fd3c6-371d-4ae9-9255-070a2c3726d7 CLINVAR:54467 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aea0e74e-5a9b-4dd7-8db9-b20760e570ef CLINVAR:267530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c226e7c5-6726-4946-87a5-6d70549f6f96 CLINVAR:267530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ae335c-29dd-4797-bb56-5fc2b2090916 CLINVAR:55374 biolink:genetically_associated_with MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 156c2b04-e2a7-41e9-a239-c00f4f3c6227 CLINVAR:55374 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd51ff6c-fd8c-461a-9c69-650bb459a4a6 CLINVAR:431973 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 558dc2b2-c9fd-4d72-87fa-d09c6dd4b76d CLINVAR:431973 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca4914a4-8268-44ed-9175-d6a13371dcda CLINVAR:55392 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c2ce2dc-caef-463d-a110-4ae7cbf0da3b CLINVAR:55392 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7ff2a4-7f46-4a2f-929b-f11713474392 CLINVAR:267601 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc2e41a0-a646-480f-9ac3-db14d6f27b8e CLINVAR:267601 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62092e6c-97f1-4016-beab-e4f1c51cc0d4 CLINVAR:55607 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 629baf94-e493-463c-ac5c-6af567f3f450 CLINVAR:55607 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0468fb8d-58b8-4f87-9ffe-a9a457eff158 CLINVAR:9325 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b643aa3e-a4c8-4f49-96ed-1653d53479f9 CLINVAR:9325 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd20437b-152d-4cd1-9e48-8a53054ca728 CLINVAR:219896 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1feb0bc3-d70e-440b-9833-c449733618aa CLINVAR:219896 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05bad634-a37c-44b8-a88e-99c22c0a5490 CLINVAR:52516 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eff5e4cb-7c04-42c4-9501-c8a96b35d9f9 CLINVAR:52516 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07db141b-f531-4627-8d10-cf06082fe641 CLINVAR:38215 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31a87d39-29e2-4f47-bb60-24caa84222d4 CLINVAR:38215 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4098033-1bff-4556-94b8-dfeaeb7e593d CLINVAR:126203 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c924790-c9e0-4626-a9dd-7ccae50347ef CLINVAR:126203 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315afe8a-9d67-422f-9b5d-a5b408302cb0 CLINVAR:38260 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 291f73bf-fdba-40dc-8fa2-d041213bafd9 CLINVAR:38260 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0d8b9a-3662-4860-8ae5-95a87406cefb CLINVAR:52919 biolink:genetically_associated_with MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84809d6b-af01-4857-947f-7f5644718f78 CLINVAR:52919 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbbc1688-53fa-45df-a4f8-6c1e5968f6a6 CLINVAR:284886 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d34f19d-1cc5-45c9-8b3b-55ed63d57ffa CLINVAR:284886 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3de76eb3-ba91-4326-8723-dd33baa63e3d CLINVAR:546808 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46123347-609b-42f8-96a2-63118850d7d1 CLINVAR:546808 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 779ac573-4802-4c54-b2ff-1edae1327e64 CLINVAR:2664365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02af6447-31f3-4238-9535-f910ff22ff59 CLINVAR:2664365 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9023c841-0912-41ed-8eb2-6bc620601ddd CAID:CA16020951 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 308c9e30-98bb-445c-99f9-62ff21b7146b CAID:CA16020951 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee98d402-3a56-47d7-bbc4-70b810c743ff CLINVAR:102717 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b92db2ad-1285-40f4-9f09-c9a0e3eba4ce CLINVAR:102717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd1a565-6096-42af-a784-0b5655a72ebd CAID:CA16020824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b43a5d3-6c30-4864-8c50-045d1b67e5df CAID:CA16020824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dfa0045-fdd2-44cb-a5b7-347bc0f71082 CLINVAR:556660 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ea8dff7-6231-42df-8d65-a36ad1662035 CLINVAR:556660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a782c5d7-f32c-44a0-b3c6-81a5433d40dc CAID:CA16020767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 506f3ecc-0b33-445d-9147-c8db4695c0d5 CAID:CA16020767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6730d163-0748-4de4-9ccb-310e5ac8832b CLINVAR:21078 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20b6a942-08a7-46f4-a87d-b9da4078e040 CLINVAR:21078 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c100449f-a565-4fdf-834a-dce3990c9149 CAID:CA16020835 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen baadaf9d-d5af-4a9c-900d-69aa32b69ae0 CAID:CA16020835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99022392-e96c-4cab-bbb2-d0dadc4af23d CAID:CA16020974 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1da43490-ab02-41a7-b4df-527ecc831159 CAID:CA16020974 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7825cbce-266b-466f-a21d-58e7fced8d74 CAID:CA16020726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9093f63a-6383-4398-a0cf-4c1a539b41b9 CAID:CA16020726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f78a95-837b-47b3-913e-15f5cc36063c CAID:CA367400776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d32ae351-f72d-498a-aedb-6f5f7013a88c CAID:CA367400776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffb5a5ab-c1f9-4eba-a1d3-b6bdbaeea107 CLINVAR:36244 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 079e3013-6fdb-4297-8a24-159002c4a325 CLINVAR:36244 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abba4040-2a75-4b4a-a1c5-9b1eee3444ae CLINVAR:1172896 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb28b627-c5e0-4628-9784-8f240b3c526c CLINVAR:1172896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6017161d-d7d4-4055-8276-fba1c8b2b382 CLINVAR:102532 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d15e5b1c-caf3-4a12-9db3-d6ac1a2c6fbd CLINVAR:102532 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 005c4629-95c6-4064-ae64-c502007e25e4 CAID:CA16020918 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 603b1744-9e3d-4085-afa3-13fc80da6c5c CAID:CA16020918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4987c406-fe2a-48cd-87eb-60f5aaab7f63 CLINVAR:102635 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cc0dd33-4bca-410a-8cb6-a2be1aa29f91 CLINVAR:102635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0a4b462-77cc-407c-8a13-f3411fec0d9a CLINVAR:495789 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01d13afb-f4f9-487d-a9e4-749947af0729 CLINVAR:495789 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0649420a-cb78-4416-a725-b730a33d776d CAID:CA16020717 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 342291cd-4184-4043-81b8-1d2d5376481a CAID:CA16020717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c750db-3ebb-4f0c-932c-c56968958890 CLINVAR:102848 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f3d6675-c9b6-4e0c-b3ac-dcdd18bae364 CLINVAR:102848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96e806d8-3b93-4ccb-9757-1e872fcbcdfc CLINVAR:558132 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1b1c4cc-6136-4d87-be94-902efbf97180 CLINVAR:558132 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2fe280b-9404-44cb-983b-f20b158796cc CLINVAR:102867 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92d4d902-43fe-42a5-a113-e4d2b10cf032 CLINVAR:102867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 437ae9cb-4b32-471d-a261-0b830e6c4250 CLINVAR:102500 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0361f15-8b64-45f8-8447-018962f5ffd4 CLINVAR:102500 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd255652-ca44-49b3-ac46-37f3ae735bf9 CAID:CA16020799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eedba35d-fd14-48d6-a138-0194083e1302 CAID:CA16020799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0298d89-f618-4bcc-8784-c29776e5e7ae CLINVAR:536543 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3df8f12f-b817-46aa-8959-97f4cb26e5c0 CLINVAR:536543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b283cc-28bd-423a-b6c0-d743c8faa3cd CLINVAR:536558 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35c2b65e-3327-4b82-b735-f4aef041ca2a CLINVAR:536558 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e25fefa9-68e1-4d01-a437-878d574f41ca CLINVAR:2674648 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbd88fc1-e9de-490b-8488-4d413bc15fb8 CLINVAR:2674648 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 441ca3ae-7143-4fc7-baec-cb38cd7c5123 CLINVAR:1687232 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 066d6987-d66b-4136-8f30-dfda0ffdaea7 CLINVAR:1687232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d491092-87c7-436c-9330-c4b2fad25d27 CLINVAR:2674649 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ec8110b-150b-4c34-bca6-ac42bdb5c254 CLINVAR:2674649 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78a9c42d-f610-4621-8fbc-a2af29f29f55 CLINVAR:888826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c17c8ae-05b1-46e3-994b-ee729b7a954e CLINVAR:888826 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453e2c13-606a-4599-a8f8-9f0e4b8657ef CAID:CA913184731 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 457723d3-bbeb-4518-84b5-7c852ae77a4b CAID:CA913184731 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a6f4ee-01e7-43dc-8b5f-107e58678bfc CLINVAR:888825 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bf1fa29-bb06-4360-b153-a4358c5a97b1 CLINVAR:888825 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09d5242b-0766-4bea-9104-b2301b02b5de CLINVAR:888824 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44feb594-7f58-441f-bdca-ffb4ecc554e7 CLINVAR:888824 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b5b3e9-d1f4-4e0c-8fa8-f9c41a409ea9 CLINVAR:428195 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e83d65e3-1139-469c-b82a-26face4fcedd CLINVAR:428195 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0dd091a-641b-4372-92fb-c3d7c044dadd CLINVAR:1334551 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a15373a4-851d-4cbc-9b50-78bad726be40 CLINVAR:1334551 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 954d20c0-a326-40e8-b14a-3dd1bf9ea099 CLINVAR:189400 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3aef794-3f98-4163-a55d-d03525f4b8e8 CLINVAR:189400 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e7d66ee-59f5-484f-861a-59e4afc900a5 CLINVAR:486972 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f495bc50-b158-4cdb-81fb-aa65904d3cb6 CLINVAR:486972 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530883fa-5778-405a-b28a-9470ef205ae1 CLINVAR:818421 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cffff27-31ea-4d9f-b165-7f519947489d CLINVAR:818421 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa454496-8fe7-4697-b73a-b0e2bed1c5e4 CLINVAR:184277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37773bbb-674b-4441-ae26-950e3a97ed00 CLINVAR:184277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbe42668-0bef-4e63-8502-f6e24966e081 CLINVAR:1704153 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c544982-4cf7-4a16-9164-b329095c1db1 CLINVAR:1704153 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2cbf1f5-fb6e-4c2f-87ab-a8b10ba83e5f CLINVAR:1320976 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61f07a59-15eb-40f7-aa5b-5e5a07aa4cc5 CLINVAR:1320976 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a7ec9a-6fed-4f03-bec2-6cc036616f2a CLINVAR:427589 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b6dcc27-9b3e-44bd-b334-8644e9a3c134 CLINVAR:427589 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3c528f-c0d3-4cc2-a004-df1dfc775647 CLINVAR:428243 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a559850-cff8-4f75-8754-8ec0d5e2f270 CLINVAR:428243 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce4a6ffb-1ddc-45ff-8cc4-a548c8d01b70 CLINVAR:280724 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28e5d98f-f623-49b6-b4d0-bf4666f66447 CLINVAR:280724 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a436d2a-2fec-4eed-afae-261082c3f9bb CLINVAR:943637 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7bb9950-2f52-4544-a7b8-f4cccdff6d11 CLINVAR:943637 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c4beb5b-060e-4a13-ad87-95a75dd7f031 CLINVAR:428266 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03fec80d-a675-4aa1-ae3a-738869fd4f81 CLINVAR:428266 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d31940b5-03a0-4ed6-922d-3b7de9c51a8b CLINVAR:233456 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ce589b9-640b-4b3b-896e-5ed8385eaa82 CLINVAR:233456 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba2a312-abf6-4d11-9ae5-505da1c23fa5 CLINVAR:393451 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d004d32-4cf0-43f6-8ca0-13601b1277f4 CLINVAR:393451 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6829a98c-faef-43e2-b62f-b01b1f0b837f CLINVAR:435311 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4e6e2f3-fec1-42b9-9595-fedf5ff26450 CLINVAR:435311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91a8a6c7-e581-4003-b98a-63f46c408f0e CAID:CA16020760 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6da225d-d5a7-4f03-bb28-fceb9fcff608 CAID:CA16020760 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dcef039-93c9-440b-9d22-bf6a9aea2e4a CLINVAR:211073 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6be83f28-9923-4619-8d2c-ec2089b75fec CLINVAR:211073 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 524c7293-c19a-41b9-9840-a2c4ab0466ac CLINVAR:555864 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46b1fc3d-9097-4630-8963-af5f06296040 CLINVAR:555864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d865a3bd-01f6-4454-9954-e1d720b6c117 CLINVAR:4024 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8eb0a96c-12e5-4874-8a83-846287a4308a CLINVAR:4024 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5437527-01f8-45d9-aefe-9471ce8cada3 CLINVAR:290225 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 611666a0-80ec-4d4c-86df-4585a8f61072 CLINVAR:290225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ba3daba-35e2-4879-9776-f9047222a672 CLINVAR:189007 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2935eced-720d-422f-b650-b66b8f181bb7 CLINVAR:189007 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48babe5f-1997-4e11-bdcd-77812a8042fb CLINVAR:285366 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c707c05-233b-44c2-8316-77b6d85b96b7 CLINVAR:285366 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 730c9b21-a068-4bbc-9e25-bcae08b71a0d CAID:CA915940648 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98852f90-42f8-4022-ac5f-505f3ca27abd CAID:CA915940648 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac517dbe-7892-4c58-9834-641c3838eaa5 CLINVAR:323546 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef0ab3f9-9d0d-4a85-aea3-4d0dbb769f30 CLINVAR:323546 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 002979e0-51dc-4663-a1a3-ce7a481b26ed CLINVAR:995104 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0f88fb0-6334-4baf-8db4-948ee1684596 CLINVAR:995104 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96636f50-c4e5-4261-9be4-f343f4cc97af CLINVAR:995103 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4637271a-d4c7-44b9-a1f3-b5919b2f25ed CLINVAR:995103 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea0ecd9-a8b3-402e-a6f4-15f1ec3bb3c1 CAID:CA2573106065 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba6d0c6c-0b74-40a4-8651-8b280a036781 CAID:CA2573106065 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8cd9fbd-ee76-4eba-8d5a-addb374797c4 CAID:CA1139771343 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fee3e7a3-22b9-48d0-bc76-7e8740eef262 CAID:CA1139771343 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612f9214-247a-4994-baaa-24f4b4093894 CAID:CA367397333 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbb40b2f-ec4e-498e-9627-a62a40ea68cd CAID:CA367397333 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f8ae76-5b9e-4646-9ed7-182d631b3217 CLINVAR:447380 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a61e5e5-aada-4e67-85de-482833d4e72a CLINVAR:447380 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db4c92dc-04e9-458e-b154-9c0182479ef9 CLINVAR:370043 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab660f0f-2748-4f4f-9ae3-00d6d960c923 CLINVAR:370043 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71111f91-90d7-4a5e-840f-eb1fc1c6e372 CLINVAR:9717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02d0743a-d8c2-42df-bbc9-e526743e5caa CLINVAR:9717 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df5bd3d5-0ca5-4905-99ba-252f056b5ee0 CLINVAR:1026606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c8a8a3e-6799-4194-96b2-e46ca42e5099 CLINVAR:1026606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9bf5622-7da9-4c79-9afd-3a565509cdcb CLINVAR:339811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 046c0077-f831-421b-ba7d-109f32364b8e CLINVAR:339811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff4a9a4-7872-432f-90a7-c60b44ffdde4 CLINVAR:658195 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13e79f15-2638-4437-92fd-8bc3389cbd83 CLINVAR:658195 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf010f8-aa88-4ac4-8355-7861b4369b15 CLINVAR:409809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a01ea75-da38-4745-8765-d6e97c0d9227 CLINVAR:409809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 726e7009-f6c3-46f3-b63b-ef5246c8a19e CLINVAR:1118048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5636b732-79b2-482b-a3f9-38b690d89f61 CLINVAR:1118048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b5d45e0-0538-44e1-a63c-bdd1366afdef CLINVAR:961001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0ded2db-e693-47e6-94a1-a858cf3da2e8 CLINVAR:961001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d17fef4-2119-4e3b-900d-348a6d7f2cd8 CLINVAR:463993 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50b23676-5d6e-4dba-94b5-763eede4a046 CLINVAR:463993 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c13fca-778f-4c10-a8a0-04f872a05a0a CLINVAR:464013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff7ffbe1-bc7b-4272-bdee-8643ba7fbedc CLINVAR:464013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f49d9ecd-30d4-4cbc-9dd7-c7f5d891f55e CLINVAR:532665 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a602bbca-cd24-4145-a2f4-fdbe58ee581f CLINVAR:532665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dc2c26c-2c83-4711-8e7b-c86b1746ab14 CLINVAR:843240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d08830d6-f87a-4d59-b4ca-d2ceead729fd CLINVAR:843240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f40cb0c-eba8-4ae2-9dbb-de85eae28fad CLINVAR:858424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bfb8346-395b-4b05-9ec2-8d8bb0d217da CLINVAR:858424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 172a5f86-4c9f-452e-a5d5-d0da435a3617 CLINVAR:896170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f87fbbb-8871-418a-8938-62be86e79103 CLINVAR:896170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f690391-cbd3-4ba0-8211-00084920d12b CLINVAR:937756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2feea12-765d-4550-84a5-9df885fb8624 CLINVAR:937756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87747cc9-156e-48e4-a58b-1f5d3060dff6 CLINVAR:946753 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d165700-18e5-468f-9f74-eef8f27f457a CLINVAR:946753 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f54c979-eb35-4cd1-9bf4-358a7b946454 CLINVAR:948058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbe9e304-7169-4f87-9440-1cfecdc608e6 CLINVAR:948058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00282ab1-f877-4785-b114-bc62a90fe7da CLINVAR:956926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e95914d-4149-437b-8341-c712405d29a8 CLINVAR:956926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcbe8439-2e86-4af1-86be-790874db5f24 CLINVAR:961354 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b00e040b-12ff-42b4-973e-3d655b7c0295 CLINVAR:961354 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f098232d-673c-48a1-9e28-fd77492b325e CLINVAR:966436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60b2fc88-e390-4f0c-a150-21a4e8c6939d CLINVAR:966436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e128b1f-53c3-47d1-a3c2-f252ab950d68 CLINVAR:1002421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce8e13f2-bd69-4f40-b4b5-b84ebea967ce CLINVAR:1002421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646ab7ac-9557-44ea-b8de-512b82e7c1a3 CLINVAR:1010850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57e70f6a-57f9-4f11-9ff4-e9d96c640808 CLINVAR:1010850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 446abb02-60c7-4842-a4ac-2a24dd9126e7 CLINVAR:1021717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 061622ab-4068-4fd5-9734-c5378faffde5 CLINVAR:1021717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121ffc66-1785-4efc-971b-344476e7b468 CLINVAR:1378669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2933570f-805a-4628-bd29-27b2bf227fb5 CLINVAR:1378669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e19a113e-9a8a-4f6c-921e-3978aba54d3b CLINVAR:1439341 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a649ede7-09a0-40b3-884a-14905167e0d3 CLINVAR:1439341 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 536d8768-e03e-4f20-bdb6-1f338977e38c CLINVAR:1465820 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a88fab3-8031-473a-b7c3-249aea09fcdd CLINVAR:1465820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7ba2507-758b-4955-8782-4456194cdac7 CLINVAR:1704949 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bcc67ba-7b0e-4fe1-aac8-4c9a333235a7 CLINVAR:1704949 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222ec676-d77f-4f8b-828c-8135db5b5573 CLINVAR:1721570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 258c8d18-1c99-4ee3-93f4-193f6dab64ff CLINVAR:1721570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec1de5c-2efd-4316-b9bd-6b8b91017366 CLINVAR:2001260 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3172ba7a-d17c-4c32-8093-6c051fc313a5 CLINVAR:2001260 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f79677ee-bb2f-4ba1-8e18-7148198f7000 CLINVAR:2060834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aed08c39-4a30-4ff8-81d4-812a537386ab CLINVAR:2060834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a47166-f8fc-4504-a9a9-c4907c547682 CLINVAR:2061265 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d23f18c4-4fc7-4dbe-846a-73bec6aa34b5 CLINVAR:2061265 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fefbd787-f110-4277-947f-5e1e31d2da2f CLINVAR:2073628 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34fe5b86-d655-43e0-862c-f64be6f84202 CLINVAR:2073628 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dfd33c4-e053-49d5-b29c-14651e9d9ac6 CLINVAR:2418762 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43147fee-c73c-4dcb-9130-3cbf9bb0ca62 CLINVAR:2418762 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10b0ec90-2695-4406-8682-a68ba433f3e2 CLINVAR:2422003 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abfc2ce1-3f53-4f85-8ba9-ccbebed3b218 CLINVAR:2422003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f964b236-26ec-4736-ac73-479a7040e2f3 CLINVAR:1068986 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22134c0f-ce8c-4d00-b78f-7c80075fadd6 CLINVAR:1068986 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c2c096a-0753-4830-936f-f0c0e4855b22 CAID:CA367403551 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a7d5d75-65fb-4481-8210-2e28cdea072c CAID:CA367403551 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02be85d2-d6d3-4a90-90ca-2a986cad1e28 CAID:CA367402684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03f2c285-9eef-48bb-8d4f-675b753e7d10 CAID:CA367402684 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31edc89-c688-46a0-9e1e-c2493694f343 CAID:CA4239602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a2f9dae-5350-4a8f-802c-e9a2ca036e19 CAID:CA4239602 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64bb4c11-cda1-4735-a21c-e5e3893f99d6 CAID:CA367398804 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcc49a56-a333-4603-aad0-a8af05ccf014 CAID:CA367398804 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec056313-4713-4fb0-9c54-4c0a4433d29b CAID:CA367402580 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bba3d6e-ff20-4a2a-b0a5-55b187d9c0e1 CAID:CA367402580 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d41ed5c-a957-4478-a41e-b5621d9d6e08 CLINVAR:2581305 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5a5d48a-44b0-446b-b2d5-5dc93e94841c CLINVAR:2581305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab5f115f-9a38-4b79-bda6-2ed5359e9c94 CLINVAR:1709730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 821730f7-63be-49db-b85a-34cfdfddb5de CLINVAR:1709730 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be6368d-1150-49a3-a93a-d8dcba83c6c1 CAID:CA367396980 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 176dbd11-a906-460a-af9b-146160dff007 CAID:CA367396980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4532e34c-c404-4593-a345-525639044ffe CLINVAR:432386 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a4871f9-fdd2-41a0-a50e-ec0c7a239e08 CLINVAR:432386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d998d61a-4f00-4068-89a6-106776cceda5 CLINVAR:994613 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fe4e65c-ce4d-46fc-bde7-2d3358d766f8 CLINVAR:994613 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c059564-3a40-4245-b2a9-e5a97ddc18ae CAID:CA367399681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb7f5c65-5b22-4767-bbc5-3c6f7d3ac641 CAID:CA367399681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e48d17a2-99e3-4ed0-8fac-412e4ba2054c CAID:CA367399678 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbe4cfa7-827e-4797-8050-b406e152ca70 CAID:CA367399678 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f562f811-1ca8-45b1-bec6-33f524f9ec99 CAID:CA913189165 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3b936dc-97bd-4b81-8e04-eb5a25b12e9d CAID:CA913189165 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f006dc1c-1dba-45b9-9576-f3f1b28c5015 CAID:CA2580617739 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 674c36d9-3303-47b3-a78b-440e07bf7ba0 CAID:CA2580617739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dfc9c52-7805-49cd-a9e0-e9ba68bd4abd CLINVAR:36239 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8184b326-d255-4013-b18d-ed1f5ac5a448 CLINVAR:36239 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b041da9b-8f5f-4ad3-8e18-cd3e731a7859 CLINVAR:36233 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f52020b-34a6-4718-a3e6-5ae2cbebfc28 CLINVAR:36233 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4baf88b3-c52b-4b1a-b0ad-6726b7fc8a9a CLINVAR:1490297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ae937c9-f86a-4fc8-9469-e5a25ff76b40 CLINVAR:1490297 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcaac30e-4c15-44af-b908-ea3061e89531 CLINVAR:995372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cfb0996-1c92-48f5-8cf1-731b87b87aaa CLINVAR:995372 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c280949a-99f3-46f2-9856-7845b04001a6 CLINVAR:804856 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f77477cd-2acf-48e9-b720-0e6a49bc78a9 CLINVAR:804856 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de6d8e5-8bb7-44ff-9708-f952043aa509 CAID:CA367401545 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11ad8457-5aef-4327-818f-9447b2a22e0c CAID:CA367401545 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf08ee87-f9f2-43ea-8390-3b37f0aafbc5 CLINVAR:198397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95f84fc9-5581-4fee-b90f-13cce141e75c CLINVAR:198397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b1b77d8-2fbb-4142-b99d-5ae4fce66235 CLINVAR:9212 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c174992-d468-45d4-ad70-5ed8cc560b37 CLINVAR:9212 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 157390f3-9145-4f53-801d-61cef668a4aa CLINVAR:36190 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4a6e007-043d-4d32-bbed-981fc3cb2d0c CLINVAR:36190 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6dc327d-08e2-482d-815a-460167de5ec9 CLINVAR:1496579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3c93291-bbb7-4e04-b935-e4e4fb6affbf CLINVAR:1496579 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb21eb8c-d2f3-4c69-b474-132cec73246e CAID:CA367399833 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1cd1572-66a8-4465-a18e-8b7f60b085fa CAID:CA367399833 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fceface0-e04a-484b-9e09-d76c9574e21f CLINVAR:846588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84821817-55a4-4df5-84ea-6993187c8c59 CLINVAR:846588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 989d41e2-1940-4f9b-98a2-6570b0dc318e CLINVAR:1338446 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f544f17a-ab68-4db2-ad98-61e10010308a CLINVAR:1338446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd601d6f-7b52-45d1-b225-88a9bae6675e CLINVAR:1746441 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4674de5a-9b50-49e7-b483-22b5b27119e5 CLINVAR:1746441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75350b8b-6a67-485b-ac4c-6d2ac50eca07 CAID:CA367400539 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 389dec37-b6e3-47dd-a21e-2ee3d1a1bb18 CAID:CA367400539 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff550ae-9308-477d-b28f-e325955e0401 CAID:CA367400540 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07eae52e-1bc5-44e4-abb4-ece3a4ef8697 CAID:CA367400540 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c4097d4-df6d-42ef-98f9-28c4a8adf395 CLINVAR:995101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bb8ec21-8c14-4d46-a51d-51398b8ede93 CLINVAR:995101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b0f04fd-4adb-47c7-9269-c5120cb7a7fb CLINVAR:2664355 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f633c5c9-472e-4d0d-87d5-9fe343eeaab3 CLINVAR:2664355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 807ec4a0-d7f5-4ca5-b5f9-09ddded52fc2 CLINVAR:2664356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16259e18-edb7-4b9a-96a7-c4bf1eeff146 CLINVAR:2664356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e4288ad-838d-4ac7-a46c-877eae961493 CLINVAR:456370 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d0ff179-e890-47d7-9831-a77ff0955f69 CLINVAR:456370 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4b9d72-128c-4483-a195-c631e9aac1c0 CLINVAR:632823 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c431aa81-6f12-4248-8ccb-498f792d9a3f CLINVAR:632823 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e51998e-665e-4baf-810d-d5b761eddbfc CLINVAR:289367 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee749a29-4a90-4276-b3f3-caec8c32bdcb CLINVAR:289367 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 035d09e6-8add-4e5b-8f40-2024bcf036e9 CLINVAR:2151633 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9ca0990-b74e-4191-8f1d-979d56689ade CLINVAR:2151633 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58739e41-19dc-472e-93c1-c20b16c5f71a CLINVAR:555820 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8518d4e6-d73a-43d9-8a96-984aded8126f CLINVAR:555820 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b3264f-3d3c-4b9c-82c5-a1dc9dbc261e CLINVAR:371622 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af1fe521-6be6-42f8-92b7-e30a5a64e99c CLINVAR:371622 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c79dec75-d4fb-42bd-8856-acc7fee9e444 CAID:CA367401747 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c87fc37-6a47-423a-9bb2-2b7cd9690171 CAID:CA367401747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72bebbf4-3476-46a4-b1a4-149ee95525b9 CLINVAR:585921 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a36d6703-0f21-49df-a059-1938307990e9 CLINVAR:585921 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c4b30f-15ca-4a49-8747-a8dacfc9df13 CAID:CA367401907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb42da79-07eb-4214-ae34-89f8a655115e CAID:CA367401907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39cc0167-b180-47b6-b609-343c53ae61b0 CLINVAR:585917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0b91623-e866-442f-a06f-3c2ad61e31ce CLINVAR:585917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf9fe91-d6ff-4f86-9a47-cd3cc7ff3468 CAID:CA367403544 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6214393-2239-4aed-aa1d-78fdd40748a8 CAID:CA367403544 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7fcf3df-730e-4818-92b6-63f695d2d42e CAID:CA367358349 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen feb76476-3984-4ace-a09d-b98f9f7304fa CAID:CA367358349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373f09ac-c27b-4180-8a5a-e85b07763216 CLINVAR:561231 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05db87d6-7a31-41a5-9e82-97d1e05e3991 CLINVAR:561231 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09eceaae-028e-49d3-b91a-883a16443073 CLINVAR:1684431 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1cc6ef6-295d-4a40-b581-6ad955dfd332 CLINVAR:1684431 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae007c9c-8d89-4a8b-96f9-a3a74211443a CLINVAR:1706546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cde35fee-13c0-4d6a-ab7a-0c94321e5987 CLINVAR:1706546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 736ca96a-bd84-46a9-99ef-6e94a6371379 CLINVAR:1073884 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79402f0a-25de-4678-9a4d-c660217f223b CLINVAR:1073884 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 150dd667-7a1b-434a-82b6-f4b36853a23a CLINVAR:945290 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4ac5c43-4ca0-44f4-9f59-2ecf2d56e7c8 CLINVAR:945290 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf80d7fb-9026-4456-9241-c644e03fc019 CLINVAR:988837 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89e53ebc-3675-4b3d-94e2-c3c7c68106e9 CLINVAR:988837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d7530a5-f319-4e6f-a266-0cbfd89e9320 CLINVAR:1074523 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1108cb70-6624-46fc-86f4-bd11ee21665b CLINVAR:1074523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8b0b118-91ea-4605-9717-d92cfc9ebc12 CLINVAR:2123057 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0635f971-855f-4093-a28d-5d5635df7652 CLINVAR:2123057 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd0ffb6b-e383-404f-8cba-1b5443c8f1e0 CLINVAR:647118 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d82431d-c637-4146-b98c-7af122f86a99 CLINVAR:647118 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bdf223a-2174-4d6e-9af2-ec39aea45e9f CLINVAR:1684407 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3809937-19f3-4c4a-828a-4cec729e4191 CLINVAR:1684407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ead66487-bffa-468e-9948-28898ac7cebf CLINVAR:1691247 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 504b4cb7-7df3-497e-ae17-adeb7b0fd83b CLINVAR:1691247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b24a8da-43e6-4d61-ac0a-4052d3cb6c01 CLINVAR:1691248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fd4459a-acbe-4238-9801-434b01203cf3 CLINVAR:1691248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f899e3b-c5ee-42cc-9da2-afe8d6b7ddd3 CLINVAR:978818 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79419e60-4e84-486b-9211-80f2bbff8d62 CLINVAR:978818 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 883cc541-fe6c-45ff-827f-75a87fcca13c CLINVAR:988416 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f50ff431-eaa8-426a-b12e-1e9bacc576a0 CLINVAR:988416 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce8cb09-ed6c-4410-8be2-9baba02af0a6 CLINVAR:1013619 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18866463-ccb4-4ea9-9ea4-cac8a89adf53 CLINVAR:1013619 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61fad1e-1138-45b5-ba63-f5d836fefba2 CLINVAR:1071785 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16afd57e-02ff-4ad0-b8b5-8770240ac6df CLINVAR:1071785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 257eddea-5b51-4eb8-86ec-833bf06b9350 CLINVAR:1692643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce2f1e91-0c9b-4670-bdf7-44986d20ccbe CLINVAR:1692643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b0038e-3958-4335-919f-d9bc70c389cb CLINVAR:417476 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48beba5d-52eb-44b5-9146-bb8a7fad278a CLINVAR:417476 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ebff07-75d7-4dfd-98b4-93faaa9df494 CLINVAR:1460018 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1384489b-c759-4cdc-a61f-58524691e385 CLINVAR:1460018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 954ac831-9af0-4a76-9804-a96187e691d5 CLINVAR:832666 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0972b54d-5272-40bf-bced-c65a8b1de206 CLINVAR:832666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 506709ae-4526-4522-afd9-845f36d16fdf CLINVAR:1073907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56e00332-c71e-4331-9de4-bd70054cd121 CLINVAR:1073907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05c8a97e-d1ee-43e9-b243-55b1c4ce189e CLINVAR:833071 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2e50eb9-8a19-4e54-8754-a551d85259e3 CLINVAR:833071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e45e35e-7d00-4444-8cfd-a8c80b829375 CLINVAR:871175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 374adb35-532a-48d2-a986-ad08cef1df9f CLINVAR:871175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7061f934-b783-43cd-af5a-38d6658e4751 CLINVAR:1065583 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55fc9ad4-2330-46a6-a7fb-04066d038e74 CLINVAR:1065583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9ac5c6-5a31-4524-821f-f622607668b4 CLINVAR:389962 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fde4aa2a-4c2c-4010-9bea-774b7742c570 CLINVAR:389962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a06eefc4-d5be-497c-95ed-2ec7b363fba9 CLINVAR:1518631 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 887e86ac-e8e9-4aa8-9bd9-4de89274fd6e CLINVAR:1518631 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67dc284a-cbb0-4cb1-80c8-0fef96c2ca00 CLINVAR:988808 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 224458c1-5c50-47fb-87c8-e94b3e8fcdcd CLINVAR:988808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f40b0d1f-1e18-4a05-98db-53d6633ec3af CLINVAR:561250 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68eb7e24-ea24-4df7-90a3-8f1188315912 CLINVAR:561250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e90b5e23-88a5-4796-ad31-b444389259cb CLINVAR:2665098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b57d5ed5-20f8-4bf5-a72d-0f7a57c0ebef CLINVAR:2665098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c4264a1-59d4-45a2-8303-d35ac578a882 CLINVAR:561251 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e44c22d5-e1b5-4e90-90cf-e2d7067f43f2 CLINVAR:561251 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdc7beb7-70e1-401d-a4fa-1d2f0dea9833 CAID:CA2573320718 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef9778ec-57d3-4dd6-ac3e-adb54b4a51e7 CAID:CA2573320718 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025b8b78-5526-47ef-9573-377f256ba18a CLINVAR:2011850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6a38924-0db0-4d1a-ba1a-8af134a586c2 CLINVAR:2011850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fb33430-7c24-451e-8fd7-545bd795f96f CLINVAR:2003897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e6cf24e-bb84-4f38-9cfb-e4cf1e669103 CLINVAR:2003897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88d015fd-f8a1-40ea-b16f-1dd54bf79985 CLINVAR:2014537 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89287be1-8030-468c-8263-cce2f0939f99 CLINVAR:2014537 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47e58ae-8d37-4690-bf7a-03db8965f3eb CLINVAR:2504110 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 232e15fb-eb81-461c-a0b4-b9ab9c0b25fc CLINVAR:2504110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff1e3378-0ea2-4cd9-892c-6ceca581c78b CLINVAR:561234 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82f831a3-5c6c-41ef-b79c-978a2b40af55 CLINVAR:561234 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8545a3b5-eaee-446d-8812-dad5b77bd84c CLINVAR:1338536 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 239c8613-cf56-473e-b028-2c8f4b9b06cf CLINVAR:1338536 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ef21bba-95cf-426d-a006-ddcbfd9f5778 CLINVAR:2129871 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d622479-2009-4d9e-9fcb-d90f1d47ec38 CLINVAR:2129871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b81f5c4a-e40e-473e-8b2f-47e5b322c48c CLINVAR:836448 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d78e8ea8-b742-4dd5-8c94-16ab66548331 CLINVAR:836448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb257a0c-b748-4f3a-8a35-c680865bfc80 CLINVAR:1996223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 329ec5a5-2ca3-4c57-bb5d-62508f1bddab CLINVAR:1996223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13ff0ad6-61fc-4a28-8bc8-2d59910a42ea CLINVAR:2177591 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d45fb97-33b2-44c6-a8f3-4f3cf46fdfc4 CLINVAR:2177591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6518ba7d-13c6-4ac6-afd4-559ea8912bdd CLINVAR:1703793 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2823f296-b039-4ba9-b777-cb4f475fcc65 CLINVAR:1703793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e6afc30-23f8-4e9d-bd68-282e42e74f0e CLINVAR:1349747 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ae67103-3cca-4a77-b174-a8f16d02fc49 CLINVAR:1349747 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e231eb73-704a-46d2-8860-b9d1dfd51cb5 CLINVAR:812913 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d4962e0-ccd4-4aa5-b26d-b5c64c86cf21 CLINVAR:812913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92875fcc-537f-4798-832e-088cb0449589 CLINVAR:1067688 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af17d021-05bf-4749-9a7d-00afb46f830c CLINVAR:1067688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 803e4a2c-8b78-4357-87e4-8fb7e9c28a8f CLINVAR:627152 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2a9d45c-0680-4a5b-8de0-05f462d9b80e CLINVAR:627152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87921d84-7de4-46d5-bee1-64b736fd9948 CLINVAR:1074352 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eae9789b-db31-4425-9727-f9278fa20140 CLINVAR:1074352 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a051358f-e795-460e-b24b-eba74ad92c8d CLINVAR:1013200 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efc02d37-4eed-4324-ba32-d1f34d16f92f CLINVAR:1013200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e241612-f9f7-48f1-84be-03b6dd2030bc CLINVAR:640550 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c11f7cb1-bf10-4383-a88a-6b139aff62f4 CLINVAR:640550 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 784d33b3-f4c3-4a26-ab53-eadcd77c2139 CLINVAR:189402 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 229893b2-e78f-4828-9a4f-d3db4442ed95 CLINVAR:189402 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f107d749-b695-4613-9ed8-ba9f3310714d CLINVAR:373446 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cda0211-9022-4b1b-8b24-524643719235 CLINVAR:373446 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51216ca6-1087-47e5-8021-78b5330b8746 CAID:CA367402681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aac2f960-acfd-44e9-b8d3-471b08402dbb CAID:CA367402681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58daac1e-7a5b-48e7-933f-ea59177d872c CLINVAR:585918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 133634a6-1c36-4f82-9e85-6d34953cd7c5 CLINVAR:585918 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7178d233-8c51-474d-92e2-7ce412a03ceb CAID:CA1703634895 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96989f24-e630-45e9-9dc0-44510d6e1979 CAID:CA1703634895 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7167f691-8713-4fc1-93c8-0aea5ef2ceaf CAID:CA16621927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c19c710b-aaf9-467c-8ebf-f27f6569c3c4 CAID:CA16621927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f55fd342-09e8-4445-ba19-a85356fa122f CLINVAR:280031 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6b3187c-234a-41d9-8969-38b6c2f97bfc CLINVAR:280031 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b67a34af-ae00-4c7c-a2b4-940be9899a88 CLINVAR:2073656 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ceb801da-5276-4bc3-9859-87141b62cd4a CLINVAR:2073656 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45383fdb-6459-4976-8f29-67669d6a4826 CLINVAR:450754 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9eaaa45-7811-4803-bd48-144059ff60b1 CLINVAR:450754 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 401d9760-59e4-4933-9528-adb9f709fc6b CLINVAR:890134 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 813c6d48-13bd-4b9e-9cea-99492661a557 CLINVAR:890134 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48749f92-f603-48af-aff8-443c08a488c7 CLINVAR:1684324 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 709dfc2d-79a4-4419-aec7-3419848824c9 CLINVAR:1684324 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4669df43-6bf4-47dc-b5b4-12295dc0d574 CLINVAR:1048589 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2579ff3-cf7b-4b83-8a94-957975c8d396 CLINVAR:1048589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f344eb6a-bcf7-493a-918e-d6740c3391bd CLINVAR:1348299 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae28f83c-ebb9-4cb4-81d3-3745f26bf244 CLINVAR:1348299 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 296a44c0-8291-48fe-8d81-77d328b3dd7d CLINVAR:456402 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc7b9762-ec22-404a-8b80-194fa97d9d6a CLINVAR:456402 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6847ec5-7037-4251-8ca4-2c7abd01afd7 CLINVAR:593593 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af4edbbb-fc05-445b-b499-13a9f85db02d CLINVAR:593593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36834266-b8d9-4b91-9404-a237f7b5d638 CLINVAR:664582 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ade30e8b-575b-45f3-91b2-70258fabb9d5 CLINVAR:664582 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce704ae-95ff-4968-a8fe-42ec273a3044 CLINVAR:285589 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0657f159-e3d7-4c63-a53a-011a1890cf24 CLINVAR:285589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f39e3a69-204a-4745-9844-bf6c448df809 CLINVAR:510585 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5fe2143-fa55-4e7b-9751-387b6fdaa13f CLINVAR:510585 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d025ae7a-16fa-4ef5-9bd8-e4d9127422ad CLINVAR:447518 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d957185a-a9c2-43de-bb9f-ad277b40cdac CLINVAR:447518 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d70b0c4-f1c3-4296-b4ec-3e798422db52 CLINVAR:972785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b88b82c6-9af7-47b4-a419-c7aedd2b8a52 CLINVAR:972785 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 057a6a4b-f5d2-4b92-9917-79c3adc82250 CLINVAR:586019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3820a2e-f01d-410b-a93f-84e53d2f49e4 CLINVAR:586019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16654e22-a621-4add-ab58-910c34fdc752 CLINVAR:133249 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08488ba8-6af6-4a01-872d-6cf028ece553 CLINVAR:133249 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4bd432a-59ed-4786-a47c-f26da04f06ad CLINVAR:102688 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c253387d-3d2d-4be7-b724-16a803ca712d CLINVAR:102688 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25da5c20-dd75-4554-9538-f601e7842851 CLINVAR:188933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06c96d60-c1bd-4322-85b4-6ecb9560232a CLINVAR:188933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c68a1b38-89d8-4e92-9bf5-0e94d4f412a1 CAID:CA16020772 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe475f02-afaf-4ca6-ae09-3b2c0e1d1015 CAID:CA16020772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ff037a-2060-4d04-827a-1a47a594266d CLINVAR:102639 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 195ea1d3-8de3-4be1-8b6f-8550a926f95b CLINVAR:102639 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11a697da-fbf2-494b-9457-7102a3480485 CAID:CA16020833 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 804b732c-c8d1-4c53-83de-ef9648701902 CAID:CA16020833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c3fc624-a476-4514-9bdb-33895699b21e CAID:CA10602335 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30ba271f-9c86-4548-a5d8-bd1ccd5dccb3 CAID:CA10602335 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 153c13dc-9f52-4085-a60f-daa4585aa8cc CLINVAR:1458264 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db404dd8-11a1-4ec9-a9bb-d86219e70716 CLINVAR:1458264 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a98fb4d-5510-4e68-839f-337af512100c CLINVAR:102899 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b75a1d67-2979-42ed-8a8f-1b29212f72d0 CLINVAR:102899 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d1d2cb9-a4c5-4770-9411-f8988520fae9 CLINVAR:102896 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b283b9d4-bb0e-4628-84eb-6a7925ef1463 CLINVAR:102896 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9dbfcc5-c84b-4c7a-a9b1-5de4ff02dfd0 CLINVAR:102586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eaad5c3a-f10b-4e66-9f4c-8a459b8dd3b7 CLINVAR:102586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ccba16-69f2-4820-8e47-ce4bf07982a1 CLINVAR:102907 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe928439-60ca-417d-9c23-8bf79f157e29 CLINVAR:102907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98c453d-0d38-4ac7-a4b1-a75518511674 CLINVAR:102904 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5475f1df-5bd9-4dbe-a864-e4eddd808b4c CLINVAR:102904 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a4fa8b-9ebd-47a1-8ab8-48fe849fef60 CLINVAR:102912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 861d2414-e5f6-4a93-8e23-f24d85b6d8c1 CLINVAR:102912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df472e71-8891-4b31-b09e-748247863949 CLINVAR:623 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7112a6e8-39ea-461d-a6f3-2d4bed325410 CLINVAR:623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d48d1f-2440-43fd-b4b3-de104210ea47 CLINVAR:439226 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51430d5f-b6e7-4fc2-ae75-310da67327cf CLINVAR:439226 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df74877-8444-415b-8656-db2b5f504adb CLINVAR:689636 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53883501-3768-4860-9adc-be952fa90f14 CLINVAR:689636 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 757a8fd4-30b4-4879-a98d-449268d44376 CAID:CA367396714 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5d71373-d4ed-43cc-97eb-20c5408ebd5f CAID:CA367396714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bf3b2ae-aece-4855-b8c1-1269e30d5f40 CAID:CA367403522 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38d17e04-3abc-48cc-aa81-851daa6fbd13 CAID:CA367403522 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04ceba1c-1b69-476b-a382-7b3710ae84e4 CLINVAR:420070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15911f04-5dd5-4b45-8d21-9b772f1ec013 CLINVAR:420070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50eb9e8d-68ce-42aa-aba2-de028efdb335 CLINVAR:129142 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3893e1a-ae1a-45bf-9fb7-cdc6c02a311b CLINVAR:129142 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e8246b-3c32-4b52-8aeb-b78e24bd6600 CLINVAR:439709 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96f9f0d5-fea2-4db2-b61d-b099c5c43714 CLINVAR:439709 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e40da825-8b2a-4af2-9e22-868ca0531481 CLINVAR:1083041 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be4a5831-09a4-4295-813d-633b3385983f CLINVAR:1083041 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d25aaafd-de83-479d-96ad-81e117706619 CLINVAR:1125979 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 553fa067-915e-4765-a617-e68f281874bc CLINVAR:1125979 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f172fb-58d0-4574-80df-39b483bc90ea CLINVAR:224133 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb30151f-954e-4642-a7e0-898f29a2cff2 CLINVAR:224133 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d0beea-8fb5-419d-a368-b46cae5ea8b9 CLINVAR:502478 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14813d76-5c25-453c-88b9-ec1f12fa784b CLINVAR:502478 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ce8c3be-4a87-4a14-8694-8ab58512f5c6 CLINVAR:932847 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e4b1674-45dc-4724-addc-41e4b96d23bb CLINVAR:932847 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa41dea-a6a1-4931-926d-b1063f960d6e CAID:CA415087450 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54ec4330-bc2d-4f6a-8a3c-5bb3bb10c1b6 CAID:CA415087450 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f90507ce-7d4c-4f8d-afb8-7b6fd920d84a CLINVAR:203574 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7034619-7859-409c-b86b-198c54eb657a CLINVAR:203574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 731581ce-a31b-4728-8ed4-e140bb8fa618 CLINVAR:11698 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6e70e75-92d5-473f-9f2e-eaf44bed60d8 CLINVAR:11698 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7042fe61-186f-43b9-b612-636505076d39 CLINVAR:429893 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b97099be-97ec-457c-9cba-e3d808b47b05 CLINVAR:429893 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d19c11e9-7597-4004-b17c-e09a03b442ea CLINVAR:421767 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 027ffcf3-7e75-4c19-be1e-33f87dd207a6 CLINVAR:421767 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95e6eb22-5360-4cbf-ad92-2d5052233c58 CLINVAR:1319163 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5682da0-83a0-4b5c-9a5c-384f3983b3f3 CLINVAR:1319163 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b193179-9a1c-4ef9-8f4a-a7becea574e2 CLINVAR:328352 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d2bc644-bc4d-4bf8-876a-2544813642ff CLINVAR:328352 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d525885-6ac6-4f55-bb4f-e05754647290 CLINVAR:16466 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9002c756-22e9-4c41-8944-e71086a54cb8 CLINVAR:16466 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 215dbc73-9864-4818-ae91-0e3459ea1dd4 CLINVAR:155951 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68117bc0-12ec-47cf-9a66-e3f560c7981c CLINVAR:155951 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 070b5d6f-7035-48db-a7a3-e634c7dafb6c CAID:CA2579985999 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52d1fe02-2706-4945-a5ec-05b1cf68e995 CAID:CA2579985999 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83472388-5773-4901-ab37-822e707a400d CLINVAR:956400 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 849ed059-d6f0-46f3-87c2-95bb747b09fa CLINVAR:956400 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6b1b7d3-5c37-4cc1-ba14-3ff7e0f1d4ea CLINVAR:2412845 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1792f94c-7866-41c6-9337-b3535b4afec3 CLINVAR:2412845 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6150b191-ba17-480d-b166-0acc60195696 CLINVAR:65692 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7a5e754-5c79-4fa2-9110-1c9dc756ebba CLINVAR:65692 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b88ea1da-d49c-43ed-bf23-4009decb0f93 CLINVAR:932737 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c32c836-b5cf-46e2-b0e6-bbbdef2d4084 CLINVAR:932737 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d84c424c-e17f-43e8-8bfd-4b5b21e99315 CLINVAR:636961 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a1d28c5-f04e-49ce-baff-60c5c3d09728 CLINVAR:636961 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fe4caec-a5c9-41dd-bee2-ad7d1b4f05d6 CLINVAR:867228 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a6313ec-de61-4a29-bd7b-1d01472eaece CLINVAR:867228 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37818087-c3eb-485d-9eae-5c316ea43f6b CLINVAR:858462 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a71aa7de-3b8f-45d2-ac2f-6abdffe1f575 CLINVAR:858462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d052e1d-14d4-44f4-9833-19b3fd311ee7 CLINVAR:572229 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0b95add-6428-412e-af60-8af97bbb3063 CLINVAR:572229 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de9c495-6a58-4876-a15e-92f76ebad491 CLINVAR:549451 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98072b48-0abf-46bf-abca-e9d3d4a0a4cf CLINVAR:549451 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e64e00ac-e1c0-4886-8043-6b59e2ee603a CAID:CA397723375 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9399a12a-3c0e-4e57-853f-b8d11cb4d09b CAID:CA397723375 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43c4e8c2-720e-4d03-bbcc-7d052e32f62f CAID:CA2580610966 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a408747-6a13-462d-8fb2-1c7064ae182e CAID:CA2580610966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8e9988-8011-47b1-8a76-eed70b644053 CAID:CA415090844 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bf81996-43b1-49e5-ae11-229a672e8831 CAID:CA415090844 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24cdb076-2b98-41f6-9a09-7e37ab79a4a0 CLINVAR:549178 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8c661b0-d4ec-49b6-b5cb-380499dc9999 CLINVAR:549178 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae68af3a-dbbe-4e6e-a5e3-518068877197 CLINVAR:2138184 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba158691-4bf3-4245-b1cd-9ff5d0f9915d CLINVAR:2138184 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c65718f8-eb90-4d32-8790-c34038f76a55 CLINVAR:1387019 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d85c58b2-3453-41b7-8bbe-b265a530d4a6 CLINVAR:1387019 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beea0553-351a-4272-8d73-2f5ef63a49be CLINVAR:495563 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1a37cc1-184e-4900-ba45-9444ff37e196 CLINVAR:495563 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e184436-d593-4a5e-8f39-9bf245d6da96 CLINVAR:477251 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3590f1aa-d08f-42e3-87d4-730ecc4d9561 CLINVAR:477251 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3621a601-495b-484b-92a7-0f3a18e55b75 CLINVAR:2419155 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 690ff6c3-f885-401a-9f8d-8d3de2896ddc CLINVAR:2419155 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c56f1657-8352-4144-8010-bdde2478de78 CLINVAR:374123 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71aca68b-85e7-4a8b-ac5a-e034ee0a3265 CLINVAR:374123 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5978d4df-bcd2-4c10-b1d4-ec1d54eefdda CAID:CA415084391 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17994d48-08da-4eab-a689-7885a8b55641 CAID:CA415084391 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac766ee9-ad4e-4907-834f-6e14ed9e19bc CLINVAR:420991 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d17e5081-d01a-4c77-b9cd-35fc437a4f7a CLINVAR:420991 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 050ef584-05b0-4397-aca5-039378feaf97 CAID:CA397723872 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d6f98e7-c463-4d4c-8e4d-fdb13756e2b5 CAID:CA397723872 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 096127b9-eb52-4567-a4d9-27e590337cda CLINVAR:11696 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 236a190e-8426-4288-aa7a-8b33d593618c CLINVAR:11696 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23774a98-e616-43c4-aaa8-e924feb53169 CLINVAR:516841 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85c7fe76-72a7-4189-8787-39c1446990e6 CLINVAR:516841 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aafecf35-c1ea-49e0-80b2-fffa9f6c6013 CLINVAR:549024 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 136e354f-c52a-4559-a29b-438130ee571f CLINVAR:549024 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd18af4-6dea-4764-90d6-b040d1e2ebdf CLINVAR:804917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aac9789c-ed15-4184-85ec-18fbfdaf3e8d CLINVAR:804917 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec68eb03-7581-4b13-a639-4f4b501472c6 CLINVAR:695019 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 547b4414-989c-4eb3-8e05-63eb84cc3bc9 CLINVAR:695019 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e83f17d8-b58b-4172-8fb5-0fbfd1a39cc9 CLINVAR:549476 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e1931c9-f617-4fb8-b7b9-0f00ad4b73c6 CLINVAR:549476 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8da9ad-66b0-4b82-899f-4ffc26b78ccf CLINVAR:661301 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e106b438-bfba-486e-9e27-8d5cbaaeb528 CLINVAR:661301 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec595872-e88d-49d3-bb56-115d27d3a649 CLINVAR:163461 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c777acfc-4e84-49de-bfe4-8c4695d99eed CLINVAR:163461 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5224653b-44d2-4519-ab1f-1fa5955a839e CAID:CA415090882 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8041a70-89ff-4908-b999-47ca153e9bbc CAID:CA415090882 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ddfbd9e-8261-4ecc-945e-40586314fef2 CAID:CA415086484 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a386cbc9-e121-4a6b-b314-4c92030251f9 CAID:CA415086484 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2046f75d-f948-4ddd-8953-ade2b2518bab CLINVAR:254305 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bae356d-3de3-4227-83c8-9aba26d5d314 CLINVAR:254305 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1e01ed-897e-4067-a356-2e5d70ebd985 CLINVAR:549013 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58b4a7fe-4e36-4f71-b1ce-536890172917 CLINVAR:549013 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2ed1f3-f3c9-40e3-a9d2-409ce6a48db7 CLINVAR:548999 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5b73835-b6bd-4849-b2e3-54495e95b812 CLINVAR:548999 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6a8e95e-51f4-40eb-b2ed-de9d63256f89 CAID:CA415088445 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 103fe7ce-445d-4079-abb3-475234bdb119 CAID:CA415088445 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52030d20-a1d1-49a3-bb94-d45ef6557bb0 CAID:CA2580610965 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d84eaf5c-4500-41f5-b58a-24466c1db6e2 CAID:CA2580610965 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc3a0203-34a4-45cb-9241-0bfd67380f1b CAID:CA8338094 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8232396e-7482-42bf-a25e-eb26f1f6ace2 CAID:CA8338094 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 861b74bb-8c07-4af9-b78e-ea04abecfea9 CLINVAR:200193 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dab80a8d-1a01-4cfe-b200-4fb6399baf9a CLINVAR:200193 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb61e6d-c8b1-4c3d-8cb9-bf33eeafa342 CLINVAR:932846 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02541f5b-c251-48a3-89ee-ecc253e9bb42 CLINVAR:932846 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609973c7-4495-407e-bb86-c3d9e7eba5e0 CLINVAR:636640 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9496b8d-87db-41a2-97ab-a3e7e34588f0 CLINVAR:636640 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19346fba-4d08-4cda-864c-0ced1ad402ec CLINVAR:429431 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf933468-04a8-44df-abd9-6bd929f35352 CLINVAR:429431 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2cfdd7-eb11-4981-8f3c-fe9ab4cbf760 CLINVAR:178034 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9a2a798-c2d9-41f5-887f-4ad35a2cec29 CLINVAR:178034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5928bc17-1a1e-4fdc-b09c-06cf81766183 CLINVAR:544257 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef3dede9-76f7-4005-8a50-d016aaf906f8 CLINVAR:544257 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a16b4395-f0b0-430c-8ed5-0aed7cc3b69e CLINVAR:549229 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c03bb696-6dc9-48e0-9968-087a75f48f21 CLINVAR:549229 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 465292b7-61d9-44e3-8725-62164c1afd49 CLINVAR:2683728 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6358754-3017-48dd-bd28-15473fcae06c CLINVAR:2683728 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0d35d2-1590-4c68-9c59-31e6cf945c89 CLINVAR:554546 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f44b44b5-64af-4d63-bfe9-0949229335b3 CLINVAR:554546 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ba68f5e-7e45-43f8-9b86-1b3165fcbf80 CAID:CA915940477 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4344b6f-a00d-49af-bf8a-49fa8aa6e023 CAID:CA915940477 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0404686f-4577-4f2a-9b06-55eb0d46eec0 CLINVAR:588631 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca49e06f-6a02-45ea-9ac6-fae2fa93b991 CLINVAR:588631 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0200f447-d6be-45c0-8aa6-f8d1d164091c CLINVAR:646976 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bc08915-70b6-439c-9123-c20eaaa00a24 CLINVAR:646976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37805de0-c15e-449e-abb4-c6f1c5c5f0f2 CLINVAR:932789 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e548499e-be33-489b-8594-4407551e6a69 CLINVAR:932789 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d13840d7-bcfc-4788-95a2-96ea81922ba7 CLINVAR:522433 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 056f018d-46c2-44dc-892f-1fb668df022a CLINVAR:522433 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e68f1855-0921-4932-92e4-91d63d942c34 CAID:CA402996840 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55ce45c6-d054-4051-91a0-bf16bac353ca CAID:CA402996840 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e21317c8-30ca-44e1-8b65-1096daa93e62 CLINVAR:549001 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e99bb86e-4440-4b5e-8bd9-c3e0b73c75d0 CLINVAR:549001 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2982d3-ccbf-4a7a-a403-f5f6bd8a16ea CLINVAR:1703957 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d16106f-760f-4bfe-8068-8f631efe2d20 CLINVAR:1703957 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b4334fd-51b4-4c2d-8b34-0595694c4661 CLINVAR:477250 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8292675-9101-49e2-b015-208db2a59c77 CLINVAR:477250 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd79aaef-f9c6-4421-96e1-c8cae16cb713 CLINVAR:1143525 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 807e2d97-7771-43b8-924f-f3c2a0294290 CLINVAR:1143525 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89256031-dfb0-4b34-bdf2-7589491c5354 CLINVAR:406288 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 053a2714-b99b-4cac-aa88-de376f970425 CLINVAR:406288 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 416c79f1-bed5-4c79-8410-9c291e773d6b CLINVAR:818179 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11375dec-5416-46d0-b458-13567def2e76 CLINVAR:818179 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb6d066-dfe4-4a65-9ba3-4d7b9b1cb19d CLINVAR:11700 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fa5574a-a8c5-4353-8a61-62a9e1faabb5 CLINVAR:11700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d519ad65-5729-4501-bf51-99ca654c8674 CLINVAR:1003911 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen add0fac8-eea0-4375-9e62-7328302e462e CLINVAR:1003911 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cae2d26-27c7-4c4d-8653-f3bd6f8dd379 CAID:CA415087684 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fcd58f3-f567-44bf-8976-b1d17fd79967 CAID:CA415087684 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceaaa6a8-a3f7-45b1-a0c7-f7d8c995ff22 CLINVAR:892468 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b8f5aef-c5c3-4abe-8305-244704929b2a CLINVAR:892468 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12f47cde-50ef-40d3-9e24-4138fc8f6cb5 CLINVAR:706747 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52c16227-7d6e-4e87-acee-68a4be5cc782 CLINVAR:706747 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff718df-7cd5-469d-8d67-2e1814c7caf8 CLINVAR:2421360 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b88735f2-82b7-4670-96e2-2215df8cf083 CLINVAR:2421360 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bdf8a0f-ad5c-46ce-8410-8746e581cb96 CLINVAR:2683726 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5175a5c6-168a-4c8d-930a-24c4674398fd CLINVAR:2683726 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a09cc9b-9328-4f01-bbd4-431d023db51e CLINVAR:180355 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83910c50-438b-40e8-8f9c-0920d3972ddc CLINVAR:180355 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53afafb1-0863-4944-9f72-74bbd620a1e2 CLINVAR:1325422 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27dd4edb-d1f0-4ea3-891c-1ad9ae35124a CLINVAR:1325422 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e980bf-c4f4-425f-a5cd-2c764353c01d CLINVAR:495609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0567eaa-be16-45fd-a9e1-e33cb16e520c CLINVAR:495609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14fdc5df-c433-4a8d-a795-fe10f3b03fae CLINVAR:155793 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dab3e195-827d-4c24-b3a3-8286920f093f CLINVAR:155793 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2667e73-99a0-4244-9f68-21907836c33b CLINVAR:222604 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e022e7a-f622-4183-9676-523844f5eb6d CLINVAR:222604 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb9ecda-eb47-4f55-bc40-085de2e3676d CLINVAR:449440 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca2e270e-6bed-4418-9f76-d406ba74cd35 CLINVAR:449440 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 269a7475-aec7-42fd-beb0-cdc1253eebeb CLINVAR:626882 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f47a181b-bca1-42bb-a201-6d81dd2c3ff9 CLINVAR:626882 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f1d534-812f-4351-90c4-a1f4c3dc9c2b CLINVAR:495599 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fb4c939-5995-4a7c-851e-358a290a21e5 CLINVAR:495599 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae6647c6-2516-42be-b932-04cdb2706100 CLINVAR:495594 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5270bedf-1588-4a91-aae2-80723ea87cfd CLINVAR:495594 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d60bc193-5c1e-4f0a-91e3-03344045003c CLINVAR:549169 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a925e55d-bdb0-4e9d-babd-25d07b27e92f CLINVAR:549169 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19e04fa4-4f8d-49e2-96e3-8baa5e69c050 CLINVAR:263660 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6055512-0a9d-4b23-882b-3516efcfcb68 CLINVAR:263660 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e6713b-ae4b-432f-9356-956d6cabc21b CLINVAR:928903 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6026008f-5d32-40f9-a7ec-15ee58864af5 CLINVAR:928903 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee0a0073-78b0-4e8d-a054-bd59c677b4d6 CLINVAR:222600 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4844ddb-640e-4161-a3ff-95a1e82a9311 CLINVAR:222600 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa4e90f9-4882-4942-bb07-f98546453dc4 CLINVAR:549150 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97776aec-084f-48cf-a556-a4bb96c15281 CLINVAR:549150 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 902d1979-398a-4621-b0e4-9d82aa2976f8 CLINVAR:915814 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d25a9f0e-6198-4a64-a558-8b43fa07b830 CLINVAR:915814 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23249351-20f8-4d3b-9a52-a7c657f421e9 CLINVAR:264089 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89261d7c-ad37-4e68-aaa6-1e1884c1b169 CLINVAR:264089 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0d712f3-1167-4194-905e-b6b936fee51e CLINVAR:549070 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bfe786d-fcab-4b22-8abd-bcdb6d5c1c2a CLINVAR:549070 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ade1011-119f-4dc1-88fc-ab29c9c7c45d CLINVAR:519758 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd537077-438a-4d54-9a3b-b99f96dabe6c CLINVAR:519758 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98073772-ae18-4e16-b25f-587a9413ccbd CLINVAR:98872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0559760-6ad6-485c-93bc-ad690cb6d87b CLINVAR:98872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39ffd89e-6867-4ac9-83d0-936bcd0ae8d4 CLINVAR:13114 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26dd703d-8423-4359-b3d2-19b7e190d3ce CLINVAR:13114 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d76ebc-af48-4c94-a657-089267f58817 CLINVAR:98880 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7af801e8-fd40-4c4e-ac6f-69f9d7c32708 CLINVAR:98880 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d64f9e-e2b8-41b2-b486-2ba251b541ff CLINVAR:660359 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc8b3490-bc78-4530-aeeb-410213b57d10 CLINVAR:660359 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4763a9a-ca29-45b7-a699-49abdabd26cb CLINVAR:98899 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c36bd3a-4bf9-4834-a165-8913cbcb8669 CLINVAR:98899 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13385c7e-6bd5-4155-9e29-a4a874be0c93 CLINVAR:98825 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45a9cbf0-8e08-4f99-b5f7-0f13d6a721fa CLINVAR:98825 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a5373cf-159e-4517-a8f8-905c453ab890 CLINVAR:1067786 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b363c56f-dd2f-4eab-a83c-2fcdc85755b4 CLINVAR:1067786 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55de19e6-b4f1-43b8-9d52-03036da971c6 CLINVAR:13117 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78938c84-1680-4e75-a5fd-6021faea0e43 CLINVAR:13117 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a84dbc-8ad5-4869-b6f0-8e95a2bb8f19 CLINVAR:1070755 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95692abb-d7db-47e1-a9e2-074107787780 CLINVAR:1070755 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d96d3306-41b6-4b24-8b96-eba300286ef3 CLINVAR:1380036 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec7e3942-1112-48a6-8772-f3aaac340db2 CLINVAR:1380036 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d625698-9701-4f01-b956-2accf328b168 CLINVAR:547296 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bf442d5-fd3f-492d-8511-7c9d4b5eb70b CLINVAR:547296 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e85063-1e4b-4d3c-9c8c-333fcf677456 CLINVAR:555394 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e7a298b-bab4-4a03-8b99-f54d51cac0d7 CLINVAR:555394 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f9102b3-67fe-4d1f-bcc7-d4bb74f75b97 CLINVAR:1023481 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8fef50d0-30f0-4401-97a8-ec1f77840260 CLINVAR:1023481 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 262af4e3-5c2e-4a83-90b8-812d8d509e9b CLINVAR:2683727 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1325519c-dcb5-4f72-a8bf-d14a560b195b CLINVAR:2683727 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4184fc8-8bd1-4551-8c22-5c1b377ca0e8 CLINVAR:854099 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0ae4b9b-f977-4da4-918f-d0af5d516f4c CLINVAR:854099 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713e5a31-5a09-4049-8194-e22b3f87efb7 CAID:CA415087966 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a82da1f-2926-4a81-8366-d7b80828ce3b CAID:CA415087966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e23d458-2654-405a-9df7-15f6a867ad02 CAID:CA415090808 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 320c7c33-8961-4df5-b06d-bbf3ca8b42ba CAID:CA415090808 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ad2c933-4ea8-4f6d-b8bd-381c1efbe726 CAID:CA2580610964 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98752dfc-7d30-431b-934a-3a16ca2bdf1d CAID:CA2580610964 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb5d815-c719-4a88-812f-373ff6759e55 CLINVAR:618516 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf5ffa5e-deac-4b74-b4eb-cba8f3ca3ea7 CLINVAR:618516 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56745705-8e70-43cf-b0a0-d1b8bca13c94 CLINVAR:338506 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03b4c03d-78a8-4e3c-8ec3-0117ab1ca009 CLINVAR:338506 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 574c06d8-bc00-4048-aff9-b53e8dd7137d CLINVAR:1966 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c871a68f-bc0c-42fc-b650-3961a27d2bfd CLINVAR:1966 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19476043-ae38-44dd-9460-12b7006e9365 CLINVAR:968664 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f14a798a-2c21-4273-8b67-855260814afc CLINVAR:968664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59009a47-c2b8-4b61-8401-6a32c21d5d64 CLINVAR:419664 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4715a6af-6045-4c2e-a59c-6be50c202ea7 CLINVAR:419664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4e163b5-7d9a-496a-9261-0978a3b83041 CLINVAR:418256 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 517c2d37-9a9c-47ed-a742-9a641b85d9cb CLINVAR:418256 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5876ec5-b1fc-4748-83ce-0b29b652b10a CLINVAR:804024 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2a7e178-054e-4203-895b-6b2094c37ef1 CLINVAR:804024 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 456226d4-7cce-4ba8-a8b9-deb39e1b8132 CLINVAR:505549 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01f85bb5-d207-4f1b-ac24-6224b9fb1206 CLINVAR:505549 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a44fc1c3-3f47-4039-84f4-8a0df1196820 CLINVAR:1979 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd1bbf9e-2c36-4448-b790-07a223dcb937 CLINVAR:1979 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe01a985-4b1b-4b91-ab8d-e5646337cf08 CLINVAR:68264 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2dace93-a3bf-4253-849f-9e319faa1e2e CLINVAR:68264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8987d060-250d-4aad-8e03-273886dbcb31 CLINVAR:1963 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3261c9d-e9eb-4a13-973f-bb4e5e982f01 CLINVAR:1963 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a73bd846-0e8b-4c65-8114-fde6d1355a28 CLINVAR:468281 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39c96ddc-b68a-4b67-91a1-77671d40fd60 CLINVAR:468281 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3ef61ee-4add-434f-8230-f88889ed49af CLINVAR:1075328 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f437d0f-b25b-47c7-b061-36b793fcb301 CLINVAR:1075328 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be9887f-8458-4169-85b7-dfd5c1ae6aea CLINVAR:1957 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ca0127d-e1cc-40b8-a679-631a8a8ba4b2 CLINVAR:1957 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 895ba640-81ef-44eb-8c3a-e83773267fb8 CLINVAR:550821 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ce92997-7fff-4a8c-9228-846d4caeddca CLINVAR:550821 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbdf47f0-5f13-42b9-9d98-7f2743cea102 CLINVAR:1473380 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 380507dc-9cb9-4aab-9744-171146839170 CLINVAR:1473380 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033a50a7-97bb-4625-bdb9-0458c2756d03 CLINVAR:1969 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4185d2d4-74b6-4ee8-adb0-4c2c1f9241be CLINVAR:1969 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e912904c-abc9-4015-b9b1-e0ddbf98487a CLINVAR:254216 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9df40d27-18ac-4cbf-ab1a-78a3885d55cd CLINVAR:254216 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5892516-9098-455b-a00c-5080ac126794 CLINVAR:986350 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69478a27-eebd-4c26-b81f-4c646a8734ef CLINVAR:986350 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e1b74fa-ca13-4771-9106-28d436467b38 CLINVAR:1713265 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afd95863-527f-4986-99ed-1252f34af64a CLINVAR:1713265 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c36189-db3f-4cc0-b41c-35e32ec07d3d CLINVAR:1069380 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a55d07f-3ec0-4fcf-ae6e-771d697cb278 CLINVAR:1069380 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9fd5ec-d705-4bc6-a72d-7d85db146e27 CLINVAR:254217 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa2b06b8-1e8b-464f-b27d-9c81a19ff35a CLINVAR:254217 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e5b7920-8373-400b-84a8-37e449a45733 CLINVAR:1679474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95d7beb0-7fd1-485f-b38c-7bdc5290cc61 CLINVAR:1679474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ffb6574-5780-4b5d-9a11-aeea59cee90f CLINVAR:1696158 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25e6f2ed-0ed5-4bae-aa1b-7b954fede352 CLINVAR:1696158 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68979805-a8bb-4abc-be92-bf170cb6ee81 CLINVAR:804345 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81c554b9-f12b-4993-8d49-db07e9ead564 CLINVAR:804345 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9f15842-6058-49d3-b2ab-f58b6e75dcb1 CLINVAR:353259 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 598e8607-b3b5-4be7-8d43-760a513c1995 CLINVAR:353259 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0233994-dec1-4f7b-9ab6-24cd9844588d CLINVAR:36392 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b021e60-dfab-4d14-bb47-96a29ece73a0 CLINVAR:36392 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2927d5e2-2e45-4905-be79-5972677d8129 CLINVAR:224841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cef0a2d9-a496-4785-adc0-320cf4a51585 CLINVAR:224841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6edc920-7d03-4f1f-9692-7ec471684f09 CLINVAR:578174 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40292eb4-7c40-47b5-aa63-e9d7431e8c80 CLINVAR:578174 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7469fdf-3446-4789-81dc-35ab11e50ed7 CLINVAR:2187538 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0261a34-e0e8-4108-a491-a0b41e17953e CLINVAR:2187538 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9713ee5-954e-4d02-b7a3-85f06e2b9a2d CLINVAR:14841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 361124be-89ab-43fc-a4a2-ff6bcc7d07d4 CLINVAR:14841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd79a29c-96fb-48bc-9d3b-6cf205b0b73d CLINVAR:1034220 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb07618b-6ae8-4c60-aedb-cd74daebd7ce CLINVAR:1034220 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3f3d443-12c8-4ed0-8802-5b19ec30a1a0 CLINVAR:304491 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ece10cca-fbb8-402d-93d9-80071f2c4254 CLINVAR:304491 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d15cb944-42c1-49a7-8e4f-3d184f78814f CLINVAR:285045 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e3c8ff0-9551-4c31-b4dd-8c32554f8037 CLINVAR:285045 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64c520dc-4482-4931-95c5-3e46f4965d7c CLINVAR:372487 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01bb244f-a19c-4956-bf07-9af22f4a0322 CLINVAR:372487 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b50ffd9c-1d91-4744-87a9-8c82b274cfa6 CLINVAR:626157 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e14181f5-abb7-4feb-821c-1181d2b5bd02 CLINVAR:626157 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0de524d-1c3e-41d3-b88a-1e7e36a86227 CLINVAR:235411 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0dc668a2-655f-4581-bf8a-70751a7db114 CLINVAR:235411 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f99877-b20a-4d03-9504-b13ef7b51a34 CLINVAR:68681 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5684a219-81d1-4390-bde8-d907aae1e747 CLINVAR:68681 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87982e19-3ed6-403f-9dd9-52923f7d6329 CLINVAR:496630 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c8e4de2-42e6-4c5b-8d3d-084ee0615354 CLINVAR:496630 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9277d5-5f06-4af1-9174-37d20738aca6 CLINVAR:13133 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1eec3607-5171-4b6f-97ca-9e1636206e01 CLINVAR:13133 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9108f6aa-1f83-4635-bf34-3bd426c183dc CLINVAR:1075544 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 242df370-c114-4ae7-869e-2a385cd12aa9 CLINVAR:1075544 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c62f47ac-217b-497b-87f8-3d2c02909d38 CLINVAR:13130 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1161815e-f791-44e2-938d-c2fa5d03f21f CLINVAR:13130 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 856eefe1-a698-4199-a9a9-e4fa14f83ab6 CLINVAR:500475 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8da11918-274a-4ec2-b29c-d05d59a3eda7 CLINVAR:500475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b2cfc7b-1c2f-415b-bea2-71d2f8774055 CLINVAR:36719 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 629d8589-18f0-4601-93e8-e4b9232449ba CLINVAR:36719 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31be0ee4-d72d-4def-92b6-549b2eb1d502 CLINVAR:1412375 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12936898-e77c-4a10-b622-da91b4cc8d00 CLINVAR:1412375 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d50d32ff-04cd-4ed7-97a6-3b394165ea3a CLINVAR:13138 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 043322f9-b169-409f-a923-ac0520146b16 CLINVAR:13138 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a528fc-915a-406d-b730-8ba26489bd3a CLINVAR:427020 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74dd9c10-ec99-4205-a518-977b996da189 CLINVAR:427020 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9063cfff-2630-4a34-9fca-7d5d8c04f650 CLINVAR:624608 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adf0bcf0-a872-46d0-a2c9-90c38bcb92f1 CLINVAR:624608 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d1d9a6-5290-4d64-bed8-b1e705134bbc CLINVAR:36415 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 914396c1-eb22-4334-bdc9-c72419d8204f CLINVAR:36415 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c78480fd-604b-4531-af0d-ad0302285853 CLINVAR:891294 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98450c39-1f1b-4992-bdfa-d5ec62e99dcb CLINVAR:891294 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba761a1a-5d3d-4285-b7bf-382d3f1cbd11 CLINVAR:81020 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d190e909-9ef1-4174-aeff-ecb9d7757226 CLINVAR:81020 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25d98581-d784-4081-b918-54f1d4c9037e CLINVAR:36423 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b737e74-0a88-44a7-b7f1-af683b80c245 CLINVAR:36423 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb0234cd-68cb-4743-8905-62bf00bb1416 CLINVAR:644288 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db9feace-0a60-410a-888e-d242e6176387 CLINVAR:644288 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b49955-dfb8-4399-952a-1d6a14ca554a CLINVAR:1999662 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c6c314f-2a35-4d60-9659-422d3618a2b9 CLINVAR:1999662 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a1570e-28d9-406d-bc10-5897c466ca90 CLINVAR:2048620 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b4c13b8-a6b2-423e-be4f-4f5efacfe67d CLINVAR:2048620 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bb44244-c88b-4339-a0a4-1e1eaf0e47af CLINVAR:2054022 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a1fecdd-f9ef-4f72-97e9-4ebcf187c00d CLINVAR:2054022 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e912fd5-187b-4c60-b027-7d195159d208 CLINVAR:962267 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cd5c765-0320-44f6-b694-b7c81e21346b CLINVAR:962267 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 837267d6-72ee-4046-8327-d9ebe802bb77 CLINVAR:372386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3ed2710-809f-45e2-ac7f-2b13e640717a CLINVAR:372386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ae358f-2bd0-439f-b0ef-5e65fb354f15 CLINVAR:280035 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08165273-7acc-4717-b7b2-6f5a72a385fc CLINVAR:280035 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce0dabc-0cb1-457f-8fda-4a12f1c6d9b7 CLINVAR:225195 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adb6e167-aa47-450e-ad68-bd63385b36ad CLINVAR:225195 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e9fe27b-2415-4431-a5f0-69f3f7dae840 CLINVAR:10027 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e506384-26ca-42fc-b6fc-160f93d94ba7 CLINVAR:10027 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2c2953-efce-4558-b004-9cc78511c4c8 CLINVAR:837417 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce210f2e-200f-46be-94e9-532d76c75bcf CLINVAR:837417 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07aa3cf3-0ce7-4cde-b0aa-0a337481ddd1 CLINVAR:532191 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 032963e7-767b-4935-a3ca-3b1eb2f8b840 CLINVAR:532191 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 264dd6c7-6815-499e-8661-4a59e09b7d35 CLINVAR:1559662 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df5d7e0f-0b1e-4d58-9059-26833c43c67f CLINVAR:1559662 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf005bc-aff5-4450-b7aa-4cb2be2c33c9 CLINVAR:1368945 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad81efdb-8ca6-40b6-a0f7-acdf14ee763b CLINVAR:1368945 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e8f131-9be8-4e8b-935f-a3a2025d7236 CLINVAR:633274 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 566b1f9c-3e20-4bc4-8c1b-4c8a22bc5d07 CLINVAR:633274 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df4d6fe8-58a9-4c2a-ae03-3514d3fa5b20 CLINVAR:690455 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e450a035-db40-442e-93af-de6da84ef8e2 CLINVAR:690455 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 065e5382-cebb-4412-a2dc-98804c17d769 CLINVAR:932987 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c298e3dd-de99-45df-88bb-516a9376175f CLINVAR:932987 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 685e3cd3-f6f0-4b0a-a559-6177db1e6f29 CLINVAR:825366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74707aa6-afa2-4241-85a5-ccf0c66a7da3 CLINVAR:825366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f2e8bc2-557b-4058-83e5-ed4a3811e903 CLINVAR:477225 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbfb069f-bd09-4032-8fa1-66136c3dcc97 CLINVAR:477225 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9861e548-788e-4d09-8f73-07f5e547d121 CLINVAR:825165 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 784525d3-fc55-457b-8863-dc574631f0e5 CLINVAR:825165 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b422938-40a2-4c14-bd43-556243599e10 CLINVAR:939082 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc59f771-140f-473c-8aa7-d4b4d5288ad7 CLINVAR:939082 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 191f6cdf-37b1-4f49-a22f-a25edb22ea7b CLINVAR:933119 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5da2376-64e6-490f-a9f7-d8e69a404f9b CLINVAR:933119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a04d4c66-b3ee-48e7-9b28-1e654ea3c3db CLINVAR:30566 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 108c7a2c-e4fc-4b5b-b91b-3b5f8cc7d710 CLINVAR:30566 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2887488c-e8cd-4ae1-b72f-e05ca8e2b8ea CLINVAR:36212 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09e03315-c80b-4019-badf-3e2d82f0bd95 CLINVAR:36212 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e91bb79-76c3-4600-bf5b-e661d3e3d4dc CAID:CA367402683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a51b4bb-9c79-4769-b675-7f556e1f4ddb CAID:CA367402683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b82c36-82b0-4caf-b391-97cbb2bbf1ab CLINVAR:447411 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8bc4435-a435-4f37-a295-8ff0dad96495 CLINVAR:447411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c824cb6-9fce-4677-9406-68cc0a3ba38f CLINVAR:804852 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41d498b2-3b6a-4852-9c8b-3827cee5a5b7 CLINVAR:804852 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 275d53d9-9814-4c0c-a540-59cdf2d32055 CAID:CA367401193 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e349a20-e2f6-4f2c-ad60-8d5200ca88f1 CAID:CA367401193 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99ff8c26-f61d-4e1b-a3b2-4c054a930c81 CLINVAR:1807279 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31172deb-c6ce-4816-9648-64e13d11599f CLINVAR:1807279 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca166504-078e-4204-8b6a-4f1535d518db CLINVAR:995373 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cad3fae-5621-45ce-8d2c-b3fbda1bdfe4 CLINVAR:995373 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b21afd45-09ff-458b-b9eb-e680c4dfd8c4 CAID:CA367397094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 030afd41-2780-464d-8057-b21bb729f90c CAID:CA367397094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b312e689-b21e-4bf2-90c6-73f86291962f CLINVAR:447381 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e3aa6b1-2276-49c9-b83c-a3d4df608be0 CLINVAR:447381 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc0a7cb-8cd1-423d-82c5-bd0546c97881 CLINVAR:36174 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24625aef-9b90-4faf-9ae0-9eaaea1da7a0 CLINVAR:36174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 719a6d9e-e61e-4a81-9390-b644c22e20ae CLINVAR:418228 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 173e8814-fbce-4b26-8b3b-4da6440cf937 CLINVAR:418228 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 672309cf-1f85-446b-96f2-e68072759615 CLINVAR:2691825 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ecc3a2a-497b-4a39-83fb-2625981e5ac7 CLINVAR:2691825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70b34827-3806-4d5c-946e-ea6784d4c41d CAID:CA367401296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb57b545-a764-4f45-bd21-b8712eb05b95 CAID:CA367401296 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed9b52b-eefc-4b0b-addf-4442a5057489 CAID:CA367401320 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 423f432a-b9b4-4a4c-870d-f8fb19346201 CAID:CA367401320 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4194cffa-5e2e-4c87-a487-172b516ec58c CAID:CA367401688 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1b99f09-90b3-4500-ac68-98174954942f CAID:CA367401688 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72532e92-a3ef-4d6b-b03f-c10380c6150f CAID:CA9870415 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73d25476-2cde-4f8a-a7c7-f320b0fadd08 CAID:CA9870415 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d40234d-5370-4f0d-8be7-b82d542265e9 CAID:CA409108291 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9e240b3-668a-4e7b-8a95-e7024ec13276 CAID:CA409108291 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d002c10-abce-4ec3-a552-0e9afad3eb22 CLINVAR:36346 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c4a819e-fae9-40bd-9455-8017dfcb8bb0 CLINVAR:36346 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a9b9e5-1b71-47e1-86c8-5304b0df811c CLINVAR:1299754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5c5b80c-6774-4bec-9fde-8101114fc090 CLINVAR:1299754 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16753ec3-9ece-435a-96aa-033282d9f31a CLINVAR:447521 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec602dce-9937-4bec-b47e-8e1562f7f25f CLINVAR:447521 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89583b23-d395-4c48-bfae-429df71bc08e CAID:CA386964742 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bacc3d98-995e-4d70-9e26-690509cdf37f CAID:CA386964742 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f155525-cdf7-4072-bc1a-6af353874b95 CAID:CA386964799 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 088cd30f-b7c3-4bbb-afa6-640b497ffcc3 CAID:CA386964799 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e09c95-0cec-438a-9158-e6ba7de4566e CAID:CA2580611076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49636d34-acff-43d3-8cab-a26e5ebfb731 CAID:CA2580611076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7b6349b-b4cb-4f83-811b-0d3484831e24 CAID:CA386965032 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c467354-9b48-414c-864c-51ff75bf59a9 CAID:CA386965032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77a8922-29f6-4613-a36b-49564316d387 CAID:CA2580611120 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29c3d528-2e32-4cbb-9a58-55f64f611dc1 CAID:CA2580611120 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e9f7c8-54b4-405d-817e-f5ad58c7e755 CAID:CA2580611121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 163f78b4-80eb-4d97-bd9d-10d3ca1ad125 CAID:CA2580611121 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e996261d-d095-44fc-a23e-be7b21805530 CLINVAR:2691846 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0bd594e-b2ca-4645-b483-3600c7f9b63e CLINVAR:2691846 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8601daf-fac7-4957-8e3f-456779d8d673 CAID:CA386960641 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 414956f1-18ed-4024-9e77-25a8ebc699ce CAID:CA386960641 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c0210d-e68c-43d4-91db-7457c45d062a CAID:CA386960737 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3d23ddb-d407-4873-98c5-0a4ab72f70d1 CAID:CA386960737 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d11f5b-875e-401a-8e29-68e33a3d0d63 CLINVAR:897015 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcdce9ac-ae53-4fbe-9b0a-ba9eb83ae269 CLINVAR:897015 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20db376c-398c-47e0-a938-cb3d2121c7de CLINVAR:2088001 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41c5b435-81ee-45af-a331-a1e017be52af CLINVAR:2088001 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aafec32f-c030-4fbd-8672-73d7bbcf3d00 CLINVAR:558340 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 515de033-e8a4-435d-92da-1b827703a0b1 CLINVAR:558340 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c75513-cb72-48d2-9f12-059720ebabd8 CLINVAR:1505857 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0de52fb-4e86-42bd-818c-5383c3dc7653 CLINVAR:1505857 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 670167b3-f8e3-4ec7-bc7f-9dfb98a50f3e CLINVAR:402341 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ee546ed-ab22-40a2-b059-ebca41b465b8 CLINVAR:402341 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b26044-77af-4b51-9294-8b2c8738398d CLINVAR:1722324 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3fb2c48-8a99-48ef-be31-4344d49d4b2e CLINVAR:1722324 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c066f0-414d-40c9-8a0b-a387162c2daf CLINVAR:2118854 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7d40db7-9008-4826-a199-a01905a6a7a5 CLINVAR:2118854 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ef1074d-4769-4cfb-951b-7940e00b425a CLINVAR:2288152 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 787114fb-5226-4dd9-9294-edfc9b2b2661 CLINVAR:2288152 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca9ca13a-eab1-4371-9ae9-aadd51eb6045 CLINVAR:2163795 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24583a1d-d502-417e-ae69-3e49c84b472b CLINVAR:2163795 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 221a4824-8487-49e2-84e3-a26b15f7ff37 CLINVAR:969751 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a71d0f14-4693-468e-a6f7-cf92808a2eff CLINVAR:969751 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0f94e58-537e-4dbb-ae3e-7e6c161d5058 CLINVAR:4665 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c43b4ec4-f2a5-4772-82b0-12cf0346cb33 CLINVAR:4665 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c019ace-98ff-459d-971c-d9b905b53e5e CLINVAR:802564 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de029d87-ee61-4026-9ffc-ea0fcb54985c CLINVAR:802564 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a968c0a-e270-4dda-940b-faecdd4a81ab CLINVAR:1364174 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fca95037-ccfb-4542-93f2-7af981aff45d CLINVAR:1364174 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f811fe4-34f2-413f-b109-685acb8b0682 CLINVAR:4674 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 197c8e8f-cda7-41db-880b-64543df4c6bd CLINVAR:4674 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3e58da7-56c3-4fcd-ac6b-1e56ed5849e5 CLINVAR:2136852 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd2f9aef-c485-414f-af56-656f7bb13404 CLINVAR:2136852 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f20366-df7e-482e-bc16-17b692c3ca43 CLINVAR:1438811 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f818731-527b-4bbb-9dd8-6ede1ed9f37f CLINVAR:1438811 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5d5e01-f130-47b9-a250-33b40b958aaa CLINVAR:2136853 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1c784c2-06ee-48b4-9d90-97c94cdf8984 CLINVAR:2136853 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d4aab2-b3ed-49ba-a012-e0e45b11b378 CLINVAR:2107279 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a099dae-7702-49ab-b547-9af87a580f1e CLINVAR:2107279 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfcc7e0e-5a7a-4b50-9bf9-364a9cbacf90 CLINVAR:841042 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 608cd3f9-e623-4eab-8f30-d3036d097b70 CLINVAR:841042 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09da98e0-d9c7-4a5f-937a-f4f6a58fb77b CLINVAR:4677 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96328f64-d8d5-442f-958e-4b6d2d48d0db CLINVAR:4677 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 099575c0-b608-40be-863d-7c720502d0ce CLINVAR:381576 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ada1b5a7-3375-4f2c-b483-95b43bf2fbfc CLINVAR:381576 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e82291-5802-4acb-9d9d-14dc643d1138 CLINVAR:496633 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85444661-456e-40c0-9de0-e6a22439790e CLINVAR:496633 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0287795b-0bd9-4794-bb9f-899411da2d8e CLINVAR:650904 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen beea191a-ff0c-41b9-b62f-b6fa11e3daec CLINVAR:650904 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5cca0d0-e242-4ab3-b63b-d0280a793797 CLINVAR:496629 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4856336c-89ff-4fc7-9129-2fcfa07339be CLINVAR:496629 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32a62044-c92b-4b6b-8b65-8a264441ca51 CLINVAR:549915 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c463911-adf5-4384-83d8-0d8c7a9e8d8c CLINVAR:549915 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f17d481-eb4b-40a7-8eba-ef3f31579069 CLINVAR:304492 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b90068c-d285-407a-ba76-02837daa393a CLINVAR:304492 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3074c6e-88a5-4fed-8eb1-07695a26d15d CLINVAR:555182 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2120eb11-3d04-4ba9-ae9c-f3f8b499f6e1 CLINVAR:555182 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 022fbace-d465-4e2c-bd19-aa8e321ad421 CLINVAR:36393 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61e578f9-8b07-4330-92d4-88298ec525e2 CLINVAR:36393 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dc9f3d0-4c2c-456b-9caa-d647d7e965c4 CLINVAR:14843 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46778356-a1eb-489f-9f27-efd2ce39bb66 CLINVAR:14843 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58cb773a-eba7-448a-9f66-bfebc1882092 CLINVAR:1968 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9f6777c-91b5-4934-978d-5e1bf8ea9bd1 CLINVAR:1968 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c211a8e5-aa8f-46c6-88ca-636391220323 CLINVAR:529744 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a419ef3-638b-408b-9989-27fff3ced4f0 CLINVAR:529744 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 608829d4-3379-4c74-bf5c-7fea7f3c8372 CAID:CA343774510 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6d0dab9-74ac-44bc-99bd-679007d85826 CAID:CA343774510 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86b4b764-ac2c-4171-9d87-bab7172989fb CLINVAR:660852 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cca69385-bcd4-4cf3-83ce-a924b623b470 CLINVAR:660852 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae1f6799-31fd-4cd7-aef6-12d4281c58a5 CLINVAR:694627 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c387e083-4d46-4677-9852-a1e1ea54ccd3 CLINVAR:694627 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f214cd81-6343-40b4-9ddf-5b5ee03a215e CAID:CA2573051124 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dafa7409-ec52-4455-88c0-c52ef8cdb11e CAID:CA2573051124 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87315732-8fed-4824-9e34-df2c622cf949 CLINVAR:18017 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ea06b01-0586-40ec-af28-ab81a605ad59 CLINVAR:18017 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ead4064f-2d73-4649-a301-8776eb942cac CAID:CA421942771 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 547f5204-a47a-4d5a-912a-f525bef45be6 CAID:CA421942771 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efd332d9-63ba-4b84-aafb-bceaa1f6ffd3 CAID:CA2580612102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5f385bd-a25f-4c7f-96bb-50716eb4bef3 CAID:CA2580612102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b53a68-77d7-4d88-9ade-af93256dd452 CLINVAR:585914 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ca3c70d-b906-41d0-9667-a2558c686049 CLINVAR:585914 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bffac0c4-4989-4e73-b24e-f8fa0b72458f CLINVAR:36172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac611dba-afe9-4600-a915-6fe967992c81 CLINVAR:36172 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 751809e3-8e41-4171-9dce-997374c42a9f CLINVAR:2691837 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ceaf3f3c-9c67-4bb3-a6a6-479a931ac4ae CLINVAR:2691837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d93429e6-8265-44a8-b169-6222dd204ea3 CAID:CA386958785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c7a19fc-2020-4414-b7df-3a94b8984489 CAID:CA386958785 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92712fba-f0c2-46e2-9f05-4016ea8d0a5a CLINVAR:1384058 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50e6396e-4a42-4a57-95bf-9f15b0e3d8b2 CLINVAR:1384058 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0bc9938-841d-42a3-a5d2-09663b96694b CLINVAR:1298987 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8210b9b0-cd20-4095-bf75-d4c336a5ac82 CLINVAR:1298987 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c318c71b-a43d-4a21-be6b-c2fd990c5405 CLINVAR:642787 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd626e45-ba21-4678-951e-6cb394d1258c CLINVAR:642787 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d70e3d-47d9-4976-8355-25fac27b0682 CLINVAR:1323115 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d43f78d1-a672-46ad-abe9-33085eea1ffc CLINVAR:1323115 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81675f4b-5ec7-4453-b4b7-be4fec8c34f9 CLINVAR:1028611 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 096e1ac1-0d05-4892-83db-fce335619391 CLINVAR:1028611 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dd1b187-ea85-47b8-8f43-dcd36468a2ec CLINVAR:596673 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef5f37c1-a29b-46f9-b3e1-7dd146659fa9 CLINVAR:596673 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f173cce7-2a03-495d-8bdb-0cc4cb1c5974 CLINVAR:866507 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5861ad65-166f-436f-bdba-370609212447 CLINVAR:866507 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55bb8997-1c9e-4d7c-9dd0-8d45a66f269c CLINVAR:29873 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15f5b5ca-8b17-43ed-bef5-6cc0e0527b65 CLINVAR:29873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6ccebac-d95c-4aba-ad96-580f6d4c29f8 CLINVAR:98846 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 865479a6-a84f-40be-bcb7-5bb2af94b92e CLINVAR:98846 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc6a4026-9c2e-408d-911b-9c5d09682c46 CLINVAR:98848 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6838c98-54d1-44a0-b521-6a5c7e79f566 CLINVAR:98848 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a7259f-7d28-4399-869c-1c074acae464 CLINVAR:1369885 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a595f67-83d2-408a-8ca4-7ccc8b3cfdb7 CLINVAR:1369885 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19084e60-fad4-4226-a165-e2ce50fd8764 CLINVAR:379561 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbac78cc-0b0d-4280-9142-b5d4d8608646 CLINVAR:379561 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a63f84-a884-476e-91f1-d57f6f916ac8 CLINVAR:98835 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ff53b44-873e-42f3-80db-3c8181ccc498 CLINVAR:98835 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 227d80e2-2998-4092-a3da-e2f7ac466a26 CLINVAR:973955 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b15b6191-f313-4be9-8c5b-7097456e64b8 CLINVAR:973955 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a904f3b-b409-416a-a85d-3599933ca7d9 CLINVAR:964193 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9748bc7-a223-42d9-89ee-7c3527f87dc3 CLINVAR:964193 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e353357a-179b-4b01-9a72-8a8734585328 CLINVAR:467827 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c82f0807-c243-409f-ac71-2ba3cc0a68eb CLINVAR:467827 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bd5dbd4-ba91-4bef-bb49-2264ebf7d8ae CLINVAR:1213912 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7fffa11-12d6-4ce3-a1d2-855fb545db54 CLINVAR:1213912 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d210cb47-f335-48a7-9718-af1b9a7268c7 CLINVAR:10019 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 195cfc1f-1ffa-458b-8728-fb5b578ff4cd CLINVAR:10019 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc25ba0d-77d4-4716-9604-b0e904dc0e76 CLINVAR:941327 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2546c09c-acae-440e-9d3d-ca6598813bad CLINVAR:941327 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb9bb53-e892-4b49-a8fb-d9a3c501324a CLINVAR:1339483 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fc0fdd3-1201-4220-8532-07f1f7c722b1 CLINVAR:1339483 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 500ae437-c992-499b-a65b-58fb729ee65d CLINVAR:429640 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 344ea50e-8fdf-445a-a3c2-63c00352a57a CLINVAR:429640 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8adaac9-b341-4cac-b18c-b1967f64a44f CLINVAR:36169 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f42c09af-bf36-471a-8d50-1b6af98b21d9 CLINVAR:36169 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 594dd26f-f17b-4900-a5d0-4b5bddd0c646 CAID:CA367400637 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0354de1-4eaf-4c40-bfae-833b44e58f8d CAID:CA367400637 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 903d07f6-dd12-4808-85a0-f1130e4f77f7 CLINVAR:2691831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc035150-ce31-42d5-ab07-c454c8f426ca CLINVAR:2691831 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca331cf8-c7fc-461e-8118-6675c403d6b4 CAID:CA367401125 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f77e4c8e-513f-444c-b106-e5858ae364b5 CAID:CA367401125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5248d2d2-471d-4989-abfc-6f2aefb6d4a0 CAID:CA367403546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0702de9f-f427-413d-8bb0-c18da049b092 CAID:CA367403546 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99ff2928-2804-44ef-b1dc-f226e1efa1ce CLINVAR:1335461 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a9a28da-b39e-44b2-a197-5459ef664df8 CLINVAR:1335461 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85398b04-59f0-4e81-9503-94041fc2240e CLINVAR:456438 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77c0c5eb-8fe4-4168-847a-591106f1ac7b CLINVAR:456438 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5404aae9-de8b-40e5-b08f-3965393ffb6c CLINVAR:526525 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6358dd45-617b-4cc6-85ab-69d4b0ab7ca3 CLINVAR:526525 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b93cc156-d215-4f0c-b9c6-3c2b6bec4091 CLINVAR:439746 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8b7455e-9132-4320-82d1-d9a2e4aa01df CLINVAR:439746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05fa59b4-eae1-4475-9ff4-95d4c16e7c74 CLINVAR:282242 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14456a3d-fad0-44fa-932c-1835da60e006 CLINVAR:282242 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb89970b-cad1-498e-95cf-bc161d8c4f1b CLINVAR:284232 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab2a1d8c-174e-48c4-aa2e-3ca31b41ef5d CLINVAR:284232 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3344a482-f692-4f6d-aaf4-59654a34a7e1 CLINVAR:465141 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72a5312f-30f4-44e9-81e0-a57fe1c5376f CLINVAR:465141 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f908d4b9-b244-4692-9236-83d923a8fdbf CLINVAR:533700 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 442e8a50-aa52-4204-acbd-547c5677dc6c CLINVAR:533700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 449535e7-fa1b-4fa2-a619-62c23cbcf83c CLINVAR:2683736 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76b8f553-c19a-4d48-87b8-4c7d7d45c1d4 CLINVAR:2683736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5feedab1-1001-4819-8f5a-5ffe19d5ecc3 CAID:CA645287926 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f401c0d-75a7-4253-a432-298019e16ac5 CAID:CA645287926 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cadb476f-d54f-4f83-aa0e-066c3ea43946 CLINVAR:2031214 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1936d0d2-5606-490b-ba6e-665372fa8e9a CLINVAR:2031214 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 598539fd-1462-4720-82e4-0b6b4c8e0e75 CAID:CA415084839 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b7622e9-18b4-4da6-ad7a-ed1f254c16c5 CAID:CA415084839 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113fbc25-4a65-4005-bb5b-df5bce1ec084 CAID:CA415078334 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0444987-c6fd-4d82-b91b-f6b02eb95d12 CAID:CA415078334 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8e66e70-2619-4081-9f5f-38795e7e4b82 CLINVAR:917495 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03657a29-cf90-4a48-8c81-5871051e1245 CLINVAR:917495 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a66ce1-9a88-4100-a8c0-225be9bed583 CLINVAR:917496 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b3e4dc3-32a9-4ebc-a535-50484a83728d CLINVAR:917496 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05036a5b-c8de-48a3-970a-70095029bd43 CLINVAR:36712 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1721752-5d5f-4b04-a278-1135f5a44937 CLINVAR:36712 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d243d6-20ea-4d15-8641-85cc447d64b4 CLINVAR:583401 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3eec1638-510a-43ee-8603-07862f299b67 CLINVAR:583401 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7556ac8-5bc6-41f7-8362-1b9a21fcee51 CLINVAR:231277 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cd81b13-4c9e-4c0a-a4b0-a8d15d5544de CLINVAR:231277 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88b9a304-7905-4a1c-a5d7-7d24b18048bc CLINVAR:135775 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a67abc8-cc55-4ce0-8fed-90eb47bd3864 CLINVAR:135775 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a142f5e-5c28-4654-8a9c-0d91edabf8b0 CLINVAR:181996 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23b7a390-a17e-4176-83cc-2859298ad1cb CLINVAR:181996 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c472fed-7c2c-4d33-ac62-afadefa50548 CLINVAR:407515 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86678c30-5909-4553-ba8c-17aaa83c6d23 CLINVAR:407515 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0258823-c154-4642-954f-535ca73929ee CLINVAR:407510 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c62b3f8-3901-472a-8297-7fa56479475f CLINVAR:407510 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 591623b1-85e8-4b65-a99d-2805cd6148b3 CLINVAR:229794 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a1ddbaa-6459-4258-9c89-452f588a6bac CLINVAR:229794 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f1e0f97-3c1f-41f8-9842-8dfae920f329 CLINVAR:127459 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7adf5fe-fb06-4dd3-a019-a91935dab615 CLINVAR:127459 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d4ee2ae-4bd9-4539-98de-2c59d2f74201 CLINVAR:2921289 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab923b79-b02a-41a4-be00-f696399ed160 CLINVAR:2921289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2abd9a1c-6652-4613-be57-b7e2941c4ad9 CLINVAR:569567 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4784198-b394-4f0f-ace9-590d731d2d3c CLINVAR:569567 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac9c62c-86d1-4f86-89b4-cb05de8f7803 CLINVAR:1713223 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8b4e100-2e5a-41e6-aff5-b6b7832efbea CLINVAR:1713223 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a82f5b-9c32-490d-82ce-4a476b0bf878 CLINVAR:2921288 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9a7606e-d53e-4098-93e4-9ccf108fc497 CLINVAR:2921288 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f316ef2b-6216-4e9b-a2fa-072809859090 CLINVAR:220121 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28acd2dc-17b0-4f8f-be4f-fd009cec870c CLINVAR:220121 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98729fff-2417-4c1c-90a4-4bcb80114232 CLINVAR:265634 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa68a183-d394-475e-a89e-2c549bcdd86d CLINVAR:265634 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc39e3e9-5076-43d4-a25b-b4242b8a7a43 CLINVAR:127405 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f47a779-a6b2-46b2-a056-c8a7ac614b48 CLINVAR:127405 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff386f0-5588-407a-b0af-3b53061589f6 CLINVAR:141887 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f41b295a-5bdf-46ab-90a8-8bc2cf09a154 CLINVAR:141887 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a72fdabc-8b0f-4a1c-83e8-dcf06b24f4bf CLINVAR:141474 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e505e62-226b-43ba-aca8-b210db607885 CLINVAR:141474 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05233206-ae33-47fd-938e-b669d04c1ba2 CLINVAR:141742 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 757fa68d-47e6-4700-ad83-6e288a45a872 CLINVAR:141742 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a504c71e-594f-4a94-a80f-fbd32fa1d8eb CLINVAR:216021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37466079-22f3-46d4-b056-7678d2ffa357 CLINVAR:216021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 443f865e-7e42-4e95-a84b-42c7fe065c91 CLINVAR:556315 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 190de417-2234-4805-91d0-50858edd7a72 CLINVAR:556315 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d64f00-d310-4822-baeb-23e0cb8557b7 CLINVAR:127463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd861755-d247-49a8-9306-4fdc0482f5eb CLINVAR:127463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ed45def-f707-48f3-b3f1-7d60e32e3ade CLINVAR:989764 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4756e42f-386f-459e-9c49-b747ce13acb7 CLINVAR:989764 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483dbe9c-0b87-4116-b451-c1935cbb1c3f CLINVAR:1515797 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb22c06e-fd66-4d35-af2d-9c54cc836a81 CLINVAR:1515797 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7be5c36f-9cab-436e-b2c4-b0870efe801e CLINVAR:1057857 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 917b3037-7484-4911-926b-b6956b60ec69 CLINVAR:1057857 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d70580ea-2f9f-43c9-805d-8b82aa751d24 CLINVAR:522770 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ca5ca14-6069-45fd-a4cf-040a66d6f9e5 CLINVAR:522770 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d129f710-6313-4169-9998-087f4a698706 CLINVAR:1015913 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cf7a3e7-baaf-4d55-a594-a3662566f373 CLINVAR:1015913 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 743c978d-3b4a-4049-9ebb-e053bf24306c CLINVAR:847561 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16d210af-2d25-45c1-a037-3aad59a7bf2f CLINVAR:847561 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 832c49f6-6fd7-45ff-87a1-a1cbf87b9b56 CLINVAR:2440718 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a6a07c3-5615-4d90-b818-07fb9152502d CLINVAR:2440718 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d17a366-de46-47e4-bc02-7f29000d0198 CLINVAR:877154 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60666d1e-dea7-43f3-aec7-f1921477881b CLINVAR:877154 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe743b53-74af-43f2-b769-535ccc3ac1dc CLINVAR:1438768 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf56dc31-69b4-437c-8994-62e8016ae39f CLINVAR:1438768 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e351818c-a46f-4df9-bf60-e3f5342f924a CLINVAR:968725 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b423594-ea43-49c5-b55c-aeb2f8a6b5aa CLINVAR:968725 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffad72bc-b082-4853-88cb-274c808931dc CLINVAR:2199693 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2cb3fb4-851e-4f97-88e9-0ea59ab21db7 CLINVAR:2199693 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab9b4cf5-9570-40f1-b104-b770779dce6e CLINVAR:633185 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bed7eeb9-d7b8-4e1f-9822-5c9fa77a8c2a CLINVAR:633185 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2974cb2c-1018-4918-9a50-6268dc2243ce CLINVAR:1515264 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb9becbf-4c96-4bf3-bed7-6c563f3248f8 CLINVAR:1515264 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d669c3cb-dff4-4b66-9b09-4d6bf15690bb CLINVAR:655337 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2976d62a-cce2-4dcf-b24f-0c8c2d2febca CLINVAR:655337 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aaa11ae-fb7d-40c5-ba9d-2aaea326b0c3 CLINVAR:1434035 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8919b145-a6af-4a40-afe2-4888fbf6393d CLINVAR:1434035 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b1af7d0-5a80-4446-b0a3-782f0e0a0835 CLINVAR:536367 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6151f665-38ab-4ee4-abf8-1c811e977dec CLINVAR:536367 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb07f8a6-b95c-4b43-a1ba-12cc51ddb9c6 CLINVAR:648095 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 233c0efd-d068-4d17-80d2-f4892c473a15 CLINVAR:648095 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e72fa25-02b7-44c5-a4c0-97e93986bf41 CAID:CA1139771319 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c14f5d92-0563-429d-93e5-13717bac7dc1 CAID:CA1139771319 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd8bb26-0c0b-46c4-923e-63c65791c3c1 CLINVAR:281715 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75dd4246-6358-4f3a-a8e7-ba99f76abe67 CLINVAR:281715 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40fba02d-8947-434f-99dc-771fedcfb783 CLINVAR:98889 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88b34dd6-dbf8-4bf7-95b9-1f7762ac3d95 CLINVAR:98889 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcedb83c-0e68-4911-b23b-095ab4af76e1 CLINVAR:1069898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cd17ef3-ccfb-422c-8d41-c8f08b03669d CLINVAR:1069898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdc0dd3e-eed3-45e1-8eed-090d462de1e4 CLINVAR:98888 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c7a9e87-83f6-4aad-87a3-08172f202a17 CLINVAR:98888 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f6ded2-c39c-4340-8878-fbb595f545da CLINVAR:658837 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17075a22-5fe7-4514-a679-7ba305c5467e CLINVAR:658837 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbff408c-f714-4546-9ddc-ed045eedb49d CLINVAR:421620 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46834f41-3b55-4b6b-a188-732520e55858 CLINVAR:421620 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70ad448f-471e-4cf0-8517-7aca2e667e07 CLINVAR:870342 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 980a4dc7-dcff-4c6f-bb7d-4dc115cd2f25 CLINVAR:870342 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b22268d3-6720-48ac-99fa-3038a5fed534 CLINVAR:962032 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a53af67f-15d0-4117-afef-046427fbd95d CLINVAR:962032 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faee5b23-a0f3-4698-a5cc-557bd51aa362 CLINVAR:298021 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b0786e8-3af4-4146-bc25-3be5b9ff42f2 CLINVAR:298021 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5b798ce-135d-41b6-8908-b33f047ddc33 CLINVAR:876133 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6491c320-efe6-4908-aa41-5fa465df92e3 CLINVAR:876133 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee13f657-d6d6-4f86-821d-6605a75e5ece CLINVAR:1026379 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ccc2241-135c-419a-a7f2-3000400dbee7 CLINVAR:1026379 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65ee755-6a14-47be-a57d-cf9ef73220ea CLINVAR:874234 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d285eefd-5950-4617-b1af-039b1a1b713f CLINVAR:874234 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1828c641-9f9e-470f-acd0-44af0b18f7e8 CLINVAR:627224 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60f91fb6-90f1-452c-bc5e-907914c03df1 CLINVAR:627224 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 956cb88b-11ff-4957-9b25-3d85e41208e5 CLINVAR:1170692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95fce573-5509-4547-a249-14f4a36962b2 CLINVAR:1170692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ce05f00-1079-4ef1-b5bc-adf90bb42411 CLINVAR:529741 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52dccacd-2d7d-4a95-96ef-cdfd4435efad CLINVAR:529741 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98736cbd-e894-4393-8220-c2b6628c5e31 CLINVAR:18004 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 972d45da-8f89-4617-a379-0e9cc29ade8c CLINVAR:18004 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cfd02c1-4ee2-4102-965c-97912b29f44b CAID:CA343772379 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33fb21de-1804-49d0-94fc-8a8c91b99516 CAID:CA343772379 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 264278bd-eb17-47e7-bd6d-4f79537efc41 CAID:CA343772388 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f9f1cd9-5693-48ea-8122-42322e08fce2 CAID:CA343772388 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 676f3895-51cd-4a1d-a61d-01e2f39dc6b6 CAID:CA343772391 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca874ac1-970b-4f54-8953-16ba705044df CAID:CA343772391 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b5cb09c-1896-40ce-a155-b883f065d766 CLINVAR:1954374 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9798d000-9a01-4b77-acb1-b058a4bf5428 CLINVAR:1954374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e42e8e-5748-490e-8cbd-17ef3bbcad26 CLINVAR:36232 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f8ffac1-9581-48b8-8a3f-0e632819860e CLINVAR:36232 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 332c127a-23e4-4b8b-8f6f-85f842ecae9f CLINVAR:1213917 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a49e15c0-3c7b-4766-be0b-5f69f149f6ce CLINVAR:1213917 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 422671da-5d9c-4f05-98b0-78762f4d7c60 CLINVAR:13118 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a1f3e0c-d141-4a9b-8bb6-c316674372f6 CLINVAR:13118 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fc4eb3c-46bc-4959-9589-eb157e2be1d6 CLINVAR:98860 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09431dc5-60fe-4702-b50a-e03425e98535 CLINVAR:98860 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67db31a8-497a-433c-816f-fa49c882411e CLINVAR:98863 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f122d678-b577-4b11-9507-bdd0d8d1e697 CLINVAR:98863 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f881f7d-4dae-4fc2-bd0f-4d4a5f82bf67 CLINVAR:2110257 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d64e0b6-3b37-4c1a-9001-ee04e930e179 CLINVAR:2110257 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c57720f3-58e4-4b7c-afdc-19866eb6df8d CLINVAR:372493 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96ec1937-b3fc-4c46-a31a-affb4c881db6 CLINVAR:372493 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bda3a5f-2649-4b3f-a82b-a1fea90fab31 CLINVAR:98898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e10b05c0-6afb-42e3-b277-21a06f209c44 CLINVAR:98898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2a33e9d-bf25-47db-b7e4-398738218ac2 CLINVAR:559521 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a5aeab9-cbed-49a7-a2d1-3e396962164e CLINVAR:559521 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694f7fe0-a747-46f1-87cf-4e24f4d7cc0b CLINVAR:427864 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa9c79de-f825-4320-9b15-ddc128ab4c71 CLINVAR:427864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d6a068-d528-4837-92aa-135c798b08f6 CLINVAR:29870 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f31abe54-9acb-40f2-950e-35c93ceed5c5 CLINVAR:29870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f038342-4aac-4fe9-a643-6b7d362cfcf7 CLINVAR:29872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5340ae26-5518-42c7-a6e7-5a5c4e000821 CLINVAR:29872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfae3775-7f6a-47cd-9380-c11d8c388599 CLINVAR:374497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32256ea4-80c7-4325-8b5e-9769e6b8303c CLINVAR:374497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc2fefcd-0ab4-4bb1-a21f-c508bd4aae18 CLINVAR:744318 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a9e7ec1-c148-4015-bbdf-a477cffe867b CLINVAR:744318 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c354c77c-5a7c-40da-b626-bd229b353d7c CLINVAR:560497 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7f9b1f6-5ac0-494a-a3f6-565bf0c26529 CLINVAR:560497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31967cbd-0e8a-4a42-9972-f478b28da89d CAID:CA500436058 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 514071a5-153a-447d-8949-915c6b3d2cb0 CAID:CA500436058 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ddc548-512f-4f78-873e-b0eb9e285a90 CAID:CA500651220 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 049e13ae-f9dc-4f97-8d27-70283d94a707 CAID:CA500651220 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aab6aa2-8060-473f-86ce-6a9c11a462cd CAID:CA399791611 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcb68e3e-3938-477a-b5a5-59f7bc5b460b CAID:CA399791611 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed595bc5-f2ad-4cea-8a25-88b776857e55 CLINVAR:98826 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96419d2c-98a9-4629-8571-4b91f516624a CLINVAR:98826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb2d921-35de-4ff8-b37f-4e4ffa5466b4 CAID:CA399803382 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4021d722-e9e2-45c3-936b-9f8072ed0a82 CAID:CA399803382 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 308aaafe-9bbe-4d34-bd99-40b4655c5bf1 CLINVAR:3242391 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33879515-36d3-4043-acea-60d13c61e630 CLINVAR:3242391 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53adecd9-c616-4f8f-afa4-d23b8d810280 CLINVAR:1677036 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a23b7547-34cc-4f44-ac8b-66754b78a493 CLINVAR:1677036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ab41f05-fe2d-47ad-9338-1ea22979d8e5 CAID:CA2497030194 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1dd50211-0d7e-4eb1-8bfd-201bdc49d115 CAID:CA2497030194 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c49f3a6-2a31-4002-a808-565a78c57b09 CAID:CA2579753976 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e8a75ac-aee4-4ba3-8c35-e86ff299da2c CAID:CA2579753976 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f4e629-15a1-4319-95f8-dd9e63e8c8fc CLINVAR:3024117 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e60b031b-0f58-43dd-af3d-82359fa86fa6 CLINVAR:3024117 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed5afa6-1772-46ae-b5cf-ddbbf32eef2a CLINVAR:801497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52bc8260-5fe4-4b40-9196-9e3dd14b9a9b CLINVAR:801497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b766797-b353-438a-8078-f266543110c4 CLINVAR:1117757 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c5f40ad-d7bd-4f40-b311-198f90d86081 CLINVAR:1117757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a298920-10b4-4241-8ff7-7629f2798b9c CLINVAR:1468758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b42ffbd4-aa3f-4c83-b1ad-a8bce95a9b11 CLINVAR:1468758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc6d8757-5d6a-42ac-8279-0e5412a20a5b CLINVAR:875116 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6d256f5-afb5-484d-8d3d-c7e15276a8f6 CLINVAR:875116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cfe183a-54e8-4865-ae8e-5c8ae1f62db9 CLINVAR:13120 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 293efe62-27f1-452a-9276-e30118ed482e CLINVAR:13120 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d359c96-cbc1-4420-908b-06b88bd5b846 CLINVAR:1438062 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d877a215-5c9c-4f99-bce1-2c0128283a6a CLINVAR:1438062 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60674596-76b4-49bb-88c4-6a60d6d71be3 CAID:CA2580612187 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9617cf47-2062-4bfa-a304-d6ed28137957 CAID:CA2580612187 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75b43ce3-551c-482f-a9e8-1137f6e85158 CLINVAR:98857 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e31caa0-5ee5-47e1-bcae-13798b237287 CLINVAR:98857 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b63feb6-71a8-4da8-a2ba-7ecc4d9cb193 CLINVAR:1030779 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d200b13-80db-4394-aa47-85dbe63e0eaa CLINVAR:1030779 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cff3870d-fea7-42fc-a15e-0871b7b66c76 CLINVAR:1068757 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0945e012-d846-45fa-813c-18a2f9453d66 CLINVAR:1068757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 343b0006-89e0-4abb-98ad-0becc430594f CAID:CA2586966742 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05c32418-2dfa-421b-bd6d-17522ef1fbc7 CAID:CA2586966742 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f5ca099-758b-4873-835e-5de3572cc054 CLINVAR:870343 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f46d3e9-66bf-4a58-b5ef-5c31b7acc994 CLINVAR:870343 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8e8e060-57d4-4789-ae9f-9b4cdcaa4b5e CLINVAR:98866 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a885e288-6738-4cd1-a886-b951fe6980f2 CLINVAR:98866 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6070913-cb60-4d92-9824-1b6e5341cdb1 CAID:CA340745588 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 728f58a2-6e20-4db2-af9f-2aab8508d20b CAID:CA340745588 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf101a9-523a-4aed-a8af-22994285bed3 CLINVAR:488726 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen def3ea9a-396c-40de-bab7-aa3643930039 CLINVAR:488726 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 744e6215-e48c-42ff-8542-4e6ea3866031 CLINVAR:1901178 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eafe3896-14e9-43dc-964d-9e480bce3dc3 CLINVAR:1901178 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8e054a-4638-44f3-a84f-7baf691622a7 CLINVAR:984454 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8577f1e4-afd8-4c7a-a15f-4212b044a8d9 CLINVAR:984454 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6434322-bbd0-4136-a9c4-51f8ec54f0fd CLINVAR:933853 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2350774-82b9-4e6a-b335-dc38ac993fd3 CLINVAR:933853 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c3d8d4-e178-4749-b201-e4319660cbac CLINVAR:1459771 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07bc3931-4905-4203-87d9-883c45427f21 CLINVAR:1459771 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fc4e555-1281-404c-ac80-e8a7cf37a095 CLINVAR:863482 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2fc9ef1-8516-474a-a116-d58da767e478 CLINVAR:863482 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea1620c0-a20f-4009-98cb-281c8e0bbf28 CLINVAR:519783 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ad392a8-4794-494f-afef-0d8c35732a1c CLINVAR:519783 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfdab234-ec06-4dde-bb9d-61bf85ef449b CLINVAR:632819 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13d53674-7e48-4fbf-a644-9c81bbd2b871 CLINVAR:632819 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd636aef-7832-4707-b5f8-1f2b5b9cedb4 CLINVAR:495629 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c749fcaf-2f34-4522-ad60-bf935ad20057 CLINVAR:495629 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3159f7c1-5e0f-4310-bedc-fff19ec025cc CLINVAR:42391 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a4587ac-c44c-4c4f-89df-60928319ba7a CLINVAR:42391 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e38cfcc3-1a6a-434e-9b84-8ccd51a15403 CLINVAR:547334 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ae0f2fc-afd9-42b3-b2db-0fe93a7eb196 CLINVAR:547334 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89f1d21d-f29e-40c5-a9f0-e2f9f12055ec CLINVAR:570737 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e4d6124-97e2-4b9c-a269-fa145b7f51d7 CLINVAR:570737 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 314b144e-f85a-48b4-9f47-a0efde5ef3e3 CLINVAR:638559 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83c55100-8abf-4f3b-80e5-26267fc25b0b CLINVAR:638559 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1be6e30-7dd1-4a93-ac38-a3135b1f3acb CLINVAR:263898 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7cef025c-8894-4f40-b0ec-395bdebf64e5 CLINVAR:263898 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1da4a390-04d0-41a1-8d2f-4119e20a247a CLINVAR:200167 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c6c5459-c3ea-4542-b445-a83817895873 CLINVAR:200167 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de5684ca-c9cc-43b1-abb3-970cb9ad268a CLINVAR:1746353 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 370b2fed-b823-4e13-9acb-c421f26bcf05 CLINVAR:1746353 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab92d2f6-ee08-4eae-ae0a-15f51dae5030 CLINVAR:1679555 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb081aad-7e61-4312-a9b1-e99344af4cb7 CLINVAR:1679555 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76eb843f-980b-4b29-9d7c-132d7aba0083 CLINVAR:21075 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e571844-feae-4ff3-bb9e-66d882cd3aa4 CLINVAR:21075 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f597458b-b184-4792-aebc-9ca28ced8c6d CAID:CA367401686 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 206d51b7-05e5-4909-a3d1-7f07d83b0133 CAID:CA367401686 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c04dfff-139d-450e-9407-fa81477ef65b CLINVAR:1746350 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff340ece-3da8-45d4-bdff-33207d8396da CLINVAR:1746350 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1534933f-61c4-4fd9-b64a-4fc1ad77e456 CLINVAR:198050 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61212e46-21c3-4f8b-b416-47510302b7ff CLINVAR:198050 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fd573cd-5f6b-44fb-a27e-a40fac107886 CAID:CA2580612107 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45832929-85f7-40f4-a898-33c6f8f4256e CAID:CA2580612107 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84351eca-c52f-4dc5-9423-23c102ea689f CAID:CA409105441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf55743b-8490-4eb8-9160-72e93438711b CAID:CA409105441 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b459401-2dcb-49fb-adeb-dda19050fbd1 CLINVAR:13136 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5a61749-a4ac-44ba-b6e2-9b262f28e956 CLINVAR:13136 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c914ce15-5285-43b0-b7d3-a3b522987a94 CLINVAR:418449 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1059c272-ac66-46e6-a64a-44f6e3dff653 CLINVAR:418449 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b8cae6d-2edd-4d6d-9500-17eee9a2ad9f CLINVAR:1050623 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27706abc-315f-43ee-8c96-74f011640bea CLINVAR:1050623 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e16326e-3dfc-47a3-bc49-f2466ac34468 CLINVAR:551588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 851e7b3e-e6b4-42e2-90cf-3de4eb1457a6 CLINVAR:551588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24088c00-d4a3-4bfa-91b3-81d6393d907d CLINVAR:941268 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4c57e60-c51c-4384-83ca-823faf7b2e07 CLINVAR:941268 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 780ba53c-b033-47c5-b211-002b40e04df0 CLINVAR:449935 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b1e0963-1266-4391-b2b5-c787763c5ca6 CLINVAR:449935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1534faf-810a-49db-9eb2-461c1ffa25b5 CLINVAR:203597 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28a93322-adef-4cab-803c-83547a35ad8a CLINVAR:203597 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ed199fb-7f93-45d6-9cd2-8106390c4939 CLINVAR:617950 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34fd4dfd-77d2-4f5e-a27d-24a7623353fd CLINVAR:617950 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3107d81a-2ad9-4f29-9aa7-badba523e8e1 CAID:CA367398695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36132ca2-9ffe-4bd1-b4c9-3ed951dfa0ee CAID:CA367398695 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8841c85-af67-47f7-a5dc-771a1f66accd CLINVAR:36182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f1a2173-4f2e-4807-8e3c-2af21f6f4984 CLINVAR:36182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 922e5e52-89c0-41c2-8594-1edd36ae083a CLINVAR:36181 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f5b82b7-f004-4df7-a8d6-b25b54216808 CLINVAR:36181 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf8074e-ee94-4336-b08b-92da9ba501ae CLINVAR:236014 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f9f0e94-1f94-450b-901e-3b84809ffe06 CLINVAR:236014 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca13a78d-2cac-4b2a-a73a-24fd75ae7997 CAID:CA367398735 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66716a59-2c68-48c6-9ced-3701c2b7b25a CAID:CA367398735 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93015eb6-b02e-4080-a6a6-e62af079f5d7 CAID:CA367398738 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9f29c73-1ea9-4676-9fa8-5b8e9976da9a CAID:CA367398738 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbc76227-6418-4b05-9175-1d4254e71672 CLINVAR:39759 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bc2c45a-bc50-465c-afbc-22812a06d5c1 CLINVAR:39759 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1914cd96-f332-462c-8232-c3a2b0f18e67 CLINVAR:1685327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bed23be-4899-42e5-8edd-4d2992918194 CLINVAR:1685327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b0df735-65c8-4b1e-801d-ee9bb8318639 CLINVAR:16134 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa8763f9-8438-45ed-a078-65a3f9febef8 CLINVAR:16134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207d65f2-c88e-4ec6-8616-102f23cc7f67 CLINVAR:393450 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a317b8cf-2259-4b71-9d02-d36beb4eb054 CLINVAR:393450 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 564d71ab-721e-4516-99f6-00ed862ffcbf CAID:CA367400787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8967f4d6-4d88-4dae-a9a9-aa770d651ff0 CAID:CA367400787 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a71b4f3a-b3b9-422d-9c2c-18b4a0d5e359 CLINVAR:447413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02340df6-0588-47dd-b8e5-a0c85cd7fe85 CLINVAR:447413 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7feac27f-a750-4be5-8543-5a4ab0607b61 CAID:CA367400788 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e03836b-0ad8-4885-8fc1-e8f28bb58d20 CAID:CA367400788 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb487af-7e54-441d-adfb-0d2a6ae29b0c CLINVAR:585924 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fc8728c-053a-4474-b8df-39bc8239de97 CLINVAR:585924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a195df90-65fa-4521-b786-389fd4e7df71 CLINVAR:36241 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 570e5a56-a347-4fef-a129-cee020bf4aac CLINVAR:36241 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b79eab5-daf9-4fc4-bb67-1349f2cc0406 CLINVAR:1704126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41850f90-5b2b-4940-abba-cfb668c4f810 CLINVAR:1704126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d0d790-8de9-4434-9876-705d232e3052 CAID:CA367402147 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4016d4dd-a5b2-464e-8fea-d607cb563843 CAID:CA367402147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68e10560-0b6c-41de-bc49-5cc751de12f4 CLINVAR:690481 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4f62081-f279-4d10-89cc-c82efde1f0eb CLINVAR:690481 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646fca2e-8d44-4090-9911-e2bbde73f124 CLINVAR:825804 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4dad151-0a93-4a55-927d-eb82e06820fe CLINVAR:825804 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38974582-aca4-46d7-afe8-23ffa3c0ca60 CLINVAR:480386 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7f5c69b-0c72-4a3e-bdab-44b3727e99de CLINVAR:480386 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac17e4b-2903-472e-945c-7e1ddcd523c8 CLINVAR:492727 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 081a2a16-9f78-4f27-b672-8e4251b15b4b CLINVAR:492727 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 753c03fe-e93a-4585-9136-30468e9215a6 CAID:CA377781872 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4274fc3f-af7a-402a-9e45-62e273c45acc CAID:CA377781872 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a0353f8-1be5-4c08-9ae9-6e1148e762dc CLINVAR:936561 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 580932d9-71af-4b95-9b99-46f08e2a6c15 CLINVAR:936561 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fcb580a-3b06-406d-a29c-34cbdfe1f735 CLINVAR:1691744 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 243db4aa-2350-447f-92f0-0aa9e2bbd465 CLINVAR:1691744 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b99fd0-8fc0-4f74-858b-c5b4e200db9c CLINVAR:1182096 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7e271ff-f8ef-467d-81c4-3db6f987c5cf CLINVAR:1182096 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b633d862-b023-4ad5-ae56-0deb7ca96aa8 CLINVAR:189481 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d312eb43-3055-4e72-a790-231ab0f54eba CLINVAR:189481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b3b30fc-22a8-49b3-9af3-0c9a38a1a5d0 CLINVAR:468680 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 222d51d0-f3a6-488c-9a2a-be99d6e6c33a CLINVAR:468680 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f4f0ca-cac3-4487-a3c8-32935af56e3e CLINVAR:967900 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcf61486-165e-449d-86e1-5b1685e05ea0 CLINVAR:967900 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7f500b8-aacd-48fd-973c-79aa05f77f94 CLINVAR:13141 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07cce545-fffd-46c1-8817-7ba362c5140d CLINVAR:13141 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9109c777-2de7-4b9f-8fbf-27904c6804c7 CLINVAR:2019436 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 367335e9-74c3-4e99-9963-b2c826d8c234 CLINVAR:2019436 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e6a6500-fdec-4106-afa0-e490617ab546 CLINVAR:936307 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acec23a9-fc99-4266-b3cd-3b42f830c5c2 CLINVAR:936307 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9546eb5-115c-43ff-85ba-9f063309a483 CAID:CA367402227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b69a4d17-9895-42b6-ae15-6330af9fca58 CAID:CA367402227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1635cb0a-3407-4a04-bd5d-2d310ad3bc29 CLINVAR:435307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c577d543-dfc1-416a-8c42-4f968caabda8 CLINVAR:435307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4548e16-886a-4f8e-b552-366fe9832841 CAID:CA915940582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7562c4a6-32dc-4554-8193-066b86917a90 CAID:CA915940582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d013973d-c3f6-49bc-a9b6-ca5528b814db CLINVAR:323558 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80632b6d-05fb-405c-a180-107a52381575 CLINVAR:323558 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd5680b-1496-447e-b5d5-43ed7186db9b CAID:CA399805605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a5c01ce-8acd-4877-8c9f-27f61b045f20 CAID:CA399805605 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b144aff-be3f-4841-9571-5ce8c098e142 CLINVAR:892303 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5605ba7d-045e-4864-a8a2-fdf371856742 CLINVAR:892303 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a5d05b-fc28-4b16-8aa7-d7d9b0cfbc96 CAID:CA400021913 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c1ecd1e-6b2c-4d21-8213-5fdcf1023a3c CAID:CA400021913 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b672f4-c3ee-45fc-a5ef-b1bf15270bb9 CLINVAR:891087 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87ef6790-7e27-4ab0-9352-675eb97a5579 CLINVAR:891087 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b0654c1-e2d4-4391-8cd2-87e5c62df1b2 CLINVAR:627063 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc7a723e-cad4-4e21-bb5c-479e9d505097 CLINVAR:627063 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c025cc3-4b38-4023-9075-36e4ba17e347 CLINVAR:654335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9580a13-8d1f-4211-857d-7ea81fa4419f CLINVAR:654335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b0be0c-514a-43cf-acca-e45bf4ca44ad CLINVAR:952576 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2884a69c-4ab7-4a3b-ae56-72b81d2055ce CLINVAR:952576 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f527cf90-14d6-4a76-a5bc-f50246aa110d CLINVAR:4673 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcbbc848-8b49-4209-b9c7-f26f337d32c2 CLINVAR:4673 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e78911-96ed-4d50-bb94-bb74af0af18d CLINVAR:1322192 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 964460fb-b85f-40fd-9a57-0926e61ceac9 CLINVAR:1322192 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0559052-01b5-4ae1-b7e7-2692e11740fb CLINVAR:657472 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a987f2b-20a4-4707-8fde-2f53ce5f572c CLINVAR:657472 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4da5bebc-86e8-4996-a737-7cd921ef47d1 CLINVAR:2136850 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b715b148-fc5f-4fcd-a922-2ae8e22302c9 CLINVAR:2136850 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af44a99f-dfd2-4d4d-95de-908c8eca8a27 CLINVAR:852821 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6173ef7f-a0b2-4b25-8476-2ceeed91e8dc CLINVAR:852821 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d57e84cc-0e6c-4c6b-a33c-3b53c93deddb CLINVAR:2150998 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7acbd961-044f-4bce-82b5-c2f791c74d78 CLINVAR:2150998 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f611c29-ce7c-4d2b-9332-551a612e3962 CLINVAR:1041357 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25dd5026-6320-4388-9f65-a586ef0d27e8 CLINVAR:1041357 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acaae3a0-bb2c-46e3-8ee4-497b410a9284 CLINVAR:556878 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c748ba8-ce18-4d9a-a995-aa840e44c799 CLINVAR:556878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 983bde7f-943b-4141-82eb-55fcc0a1cfb1 CLINVAR:225196 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56d576a9-6c5d-40eb-ba9c-d0d729a6bd9e CLINVAR:225196 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f69a56-e234-4d02-9bab-99f4e182d56d CLINVAR:225194 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dccd0ab6-f1c0-42f5-9934-50f1cbd28cfd CLINVAR:225194 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba7470bc-0b33-4771-9a36-9ded7478f327 CLINVAR:947759 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab7dde34-6b2a-427e-8b80-21d640175142 CLINVAR:947759 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5def51d2-85a7-4eb0-a376-d6aa598cc41e CAID:CA413496512 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88210d1e-1b26-4581-a64e-3cd9679914c6 CAID:CA413496512 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 309675dc-bd3e-44ec-b3ac-10759b77cda8 CLINVAR:3028906 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen caa0f16e-e91b-4243-ac9a-0dbb9a5348aa CLINVAR:3028906 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b375b3c7-21de-494c-9298-771d2fa37423 CLINVAR:3028907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4630e652-0049-4f89-a22a-056a2673ce5d CLINVAR:3028907 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21f3b45a-944b-40b5-a2dd-2323de2a4a7e CLINVAR:585919 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8aaa8efa-4b64-4642-b62a-df76058ab6f2 CLINVAR:585919 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e7fbee-50e7-453b-a80e-a9ac59d3ae0c CLINVAR:973191 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75d79d8f-1192-4938-b1b8-ddb15fb158e6 CLINVAR:973191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0431091f-ebb5-48c9-ae58-c5ffa3c14806 CLINVAR:447397 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3eea4e55-e868-4980-82b7-c078766db398 CLINVAR:447397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e24d3671-3a53-411f-b88a-a37d8c668c5b CLINVAR:522504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 077ad771-7603-4fa6-a865-dd1eed68e6c9 CLINVAR:522504 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 764b96ed-9cf3-48ba-a247-36057db6131a CLINVAR:162369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e56ec95-f577-43d6-a1a6-61b38b4e5c17 CLINVAR:162369 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9e30504-c300-4a42-ae94-d1df0ff39034 CLINVAR:9654 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95242688-8232-44fb-87a2-c82f4517fcaa CLINVAR:9654 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db3e86b-e8f3-46e9-9961-ffb7d8ebf4c1 CLINVAR:9669 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13677786-8e47-4238-bc8c-1bb7ec2300e7 CLINVAR:9669 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2656c82-99a5-4b8d-afd3-64a693e97006 CLINVAR:9668 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b827c8e-7fd8-4f60-8391-06b923befd41 CLINVAR:9668 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ff3e331-3ed8-4724-a601-d85016a652ce CAID:CA367402547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 379ab3f2-d1de-4fc2-bac1-c47707f65044 CAID:CA367402547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4909d880-52db-471d-b5a5-d36686cd9499 CLINVAR:407115 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46f5dcf5-372d-4462-8acd-fe7fbee3e68a CLINVAR:407115 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be2eeb9-2112-4d7f-b8f3-a2c92bb704aa CLINVAR:435060 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 578363e8-2efb-4aa9-a85c-580bfa54d1ff CLINVAR:435060 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7259ef2d-6252-4861-bf59-a8d666213f82 CLINVAR:282707 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcd76f03-c430-48a6-8dcb-c238d8892cde CLINVAR:282707 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4190cae9-1f07-4cef-b4ee-192bb978a5e6 CLINVAR:458346 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cd22454-3f48-4840-9c85-22c9599fcb74 CLINVAR:458346 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 051b251d-a7e9-47f7-9c9b-28be6b73ae7b CLINVAR:618625 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f19b3bb-ff88-41fa-bf2b-b2fb425817fd CLINVAR:618625 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c19526a-3128-44b2-bddb-f80bb87b1f3e CLINVAR:1352569 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7b64ec3-e79b-4df8-8688-db489d0036d6 CLINVAR:1352569 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df90d4a-c09e-4835-b334-8d08691518c0 CLINVAR:426118 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb474ee7-a34f-4548-832a-71d0ad7eb9d9 CLINVAR:426118 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 289561ce-1a68-485f-b4ed-113b0cbea344 CLINVAR:565574 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c912db3-b224-4d9a-8d04-8332e0e1a5d8 CLINVAR:565574 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3caf1ff-381a-4079-9cfa-8a8568e28ef8 CLINVAR:414302 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcd79893-5389-42c7-a46b-babd7edcf489 CLINVAR:414302 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6186a33-c54b-47f3-969f-559a33da1929 CLINVAR:8243 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 319a26ef-8bf3-4606-8a4c-c3edcf02e275 CLINVAR:8243 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef866959-4f9d-4328-96b5-059afe6524ee CLINVAR:1744752 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 860a42ba-c580-4cc8-bcb4-d005e3865df3 CLINVAR:1744752 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f1cca3-aa96-48d7-832f-dea43399c469 CLINVAR:811065 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38d848f4-1b7f-4283-a3bc-764c3b000cab CLINVAR:811065 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6badd4c-ba8d-484c-aeda-b047ca016c26 CLINVAR:657805 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 726737de-2b89-4782-aea1-e905e7a38bda CLINVAR:657805 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95416093-759b-48d8-8f12-8ce6132cbd0c CLINVAR:994236 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen deccdc52-1823-473f-ae41-976df8d4033e CLINVAR:994236 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd23c7b-910b-4913-91b9-f3073f65b5c2 CLINVAR:848699 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5088b9c5-d4c2-4686-95da-7f9e411f2bb8 CLINVAR:848699 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 372585fa-b6e7-4a07-b172-e6c97c871617 CLINVAR:212802 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a31df7de-68a4-4060-8950-a9efad177b18 CLINVAR:212802 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13dbb119-dbf9-40a2-9420-5d45f0e15647 CLINVAR:1948619 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42842b3a-37eb-400f-88e5-fb8de4b496bb CLINVAR:1948619 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f7da671-3af7-41da-80bf-2737be135b98 CLINVAR:411300 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4407479a-caee-452a-8d7d-13d95d2b005a CLINVAR:411300 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c387b62a-8c69-49a7-958a-95f630420979 CLINVAR:426040 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dea80736-503f-4c20-ba8a-40fb1e394900 CLINVAR:426040 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34ff84e2-d49e-4a97-a569-1dc2358aec6a CAID:CA605238909 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a086247-e14b-490a-a241-8f2139e39727 CAID:CA605238909 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebaa272f-73d2-4955-9af5-be6c38ea3f96 CAID:CA2740089968 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 129f6b74-4892-41b1-a662-c79b5d4bffd0 CAID:CA2740089968 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4ee6552-9244-49ed-be98-c3ae9b1d6c1f CLINVAR:237027 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2919aa94-aea6-4633-9136-3cf2352ee455 CLINVAR:237027 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b046565c-0371-4218-867e-19e5c67de609 CLINVAR:9664 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f24ee8e1-9bc5-419d-8c99-2fb86720ee1d CLINVAR:9664 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23708906-c765-4395-9bc3-3e4220e8d041 CLINVAR:800503 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2fbbebf-5c9d-43ee-a6cc-db3bbc529ae1 CLINVAR:800503 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4976063a-2559-4fa1-b1ec-77c86182ab01 CLINVAR:9686 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a23f557-d422-4ef8-a1b9-44a0d6bea3c5 CLINVAR:9686 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca74a566-c753-4d93-8dbe-c2201e0d4d1d CLINVAR:693440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 121bc3c9-7a85-49b7-9692-2a243c337ab9 CLINVAR:693440 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad045d43-5144-4e57-b1cf-dcaf43dd2610 CLINVAR:156375 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4373996a-6cdc-4c9f-9d66-08a95ac6a77b CLINVAR:156375 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9571a95f-f6e3-456c-a2a6-b3d4d0b76568 CLINVAR:9604 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98551e74-0956-4e7f-92c5-c94bbdc89dba CLINVAR:9604 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47c92bd3-1b0f-4b30-a7f6-86b237756204 CLINVAR:690169 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 363fc870-0338-4001-b1cc-5e3f1eb1effd CLINVAR:690169 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3524395f-206e-4ea1-a7a0-50c6edfef5a9 CLINVAR:690161 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f7e30c3-4877-4096-bdc3-94fc6490f06c CLINVAR:690161 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90617f50-1ee5-40da-952e-7a7c62786c73 CLINVAR:376098 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41f36eef-fd21-4c53-8aa4-1f69af86ce63 CLINVAR:376098 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8ca7d6a-6bdd-4327-b1fa-0e4a3f935bfd CLINVAR:451690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48ae803c-6b94-4dd4-b374-718e3689ed3f CLINVAR:451690 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd2c2264-949d-4cde-9dbe-9bf428b31857 CAID:CA367402001 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea5d9b4e-91cd-4470-a480-a6e7e1bf1231 CAID:CA367402001 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9721395b-5dd7-4c4c-8804-754cf39de4da CLINVAR:36218 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32fd39fb-53ef-4e52-9d24-31ca8ff3fdea CLINVAR:36218 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8764f6e-f6c8-4117-8b9d-a1e304057dcc CAID:CA367401942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82212638-fffb-484f-b939-20fee7870078 CAID:CA367401942 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f848f7a1-67ee-41c7-b0e3-58aeed9c2532 CLINVAR:3066429 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bcaefcbc-2811-4ffc-b246-0c3b1644fc3f CLINVAR:3066429 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2a9ef9-4afe-4ce9-af6a-524849d46aa9 CLINVAR:3066438 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a3776fe-88a3-452e-b586-06e3c9ee85e2 CLINVAR:3066438 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0d19c33-caff-4ef1-82da-91bab2dbcfc6 CAID:CA2695201729 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 092f6961-741e-4145-856b-277c01ffc084 CAID:CA2695201729 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 918084cd-1e7e-4726-b99b-2d780e612370 CAID:CA415079810 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b7c4a9c-a44b-41c0-9f0e-f54bd0cbde2c CAID:CA415079810 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c856156b-1dd6-440d-850f-b0005109fc8c CAID:CA2582121421 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bb4f0b2-06cf-4399-81f8-4ca97e69b8ba CAID:CA2582121421 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c2d3bc1-80a4-4819-ad31-d0496e288e60 CAID:CA2582121298 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef0c299d-4a23-4b01-8e63-af7b68db20eb CAID:CA2582121298 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd0fb061-4274-4a8a-b482-6ea71bef976c CAID:CA2582121175 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95138398-70b8-4054-ba27-71246434b7e7 CAID:CA2582121175 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7486c414-88e8-471f-b153-ea220a59850e CAID:CA2582120572 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3831c06b-0b9e-400e-a60f-8a8b3ab047b6 CAID:CA2582120572 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f4f59d2-371c-45bd-9cc4-f7a2d62db3ee CAID:CA415083182 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5fd248e3-938a-49c8-a9e6-517801484394 CAID:CA415083182 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771f83e3-b9e3-46ba-8860-1bd4b9bfe2d9 CAID:CA2582130583 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0e39abd-dbe6-4206-b153-9cfb947e20b1 CAID:CA2582130583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd10f4f-f627-43f8-9d49-2b51322fd352 CAID:CA337220546 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eef1dfdd-72ad-49b6-8de8-fbb8e1abda71 CAID:CA337220546 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4262f631-0343-403d-bddf-3df9e1339ccf CAID:CA415090852 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40932430-5b68-4d3e-b317-596915f60be4 CAID:CA415090852 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fda26c6b-7338-4da5-8d2b-8cb246a575ea CAID:CA915940480 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb347717-423d-4e65-867c-10f6cbdaac79 CAID:CA915940480 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e60bf10-dbbb-4ac3-9605-78d25136e307 CLINVAR:11704 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eee7806c-6950-4d0e-b8a4-9f2635521a4a CLINVAR:11704 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b76308-6073-442a-9283-8b73b706086f CLINVAR:1303056 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eac16e16-3197-470e-ba22-955132ec463f CLINVAR:1303056 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b45fdac-30ac-4c4f-b6e1-e28e5f5aa331 CAID:CA415084403 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31a72aa7-e64f-48f3-bad8-891631ec08d8 CAID:CA415084403 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02015bc5-d7b5-4c08-ba1b-73c80cfa55d9 CLINVAR:2138757 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7f28008-4e30-4149-8589-f1d91ebf6cb0 CLINVAR:2138757 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bee203f-fdef-4552-afd2-d58751ca711d CLINVAR:92288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37c9d249-670b-43fb-bcbc-a641819ff438 CLINVAR:92288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8062dc5-b412-447e-b38d-2ccfa43d5096 CLINVAR:432108 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca94d788-d6a7-43aa-98da-a9b70593767d CLINVAR:432108 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 924e2a39-e603-4d69-b671-47c5689eb45b CLINVAR:426278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7db87ba4-7617-4e97-aa50-ed6ffe1049e1 CLINVAR:426278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c034ec9-59f6-4fe9-abfe-bb24f1b397cc CLINVAR:92472 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6440aa6e-7b48-4bf5-8e4d-8025cb2086df CLINVAR:92472 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7013f3e-d111-498c-93ac-32d4992f0d7f CAID:CA401366522 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2255531-7aee-4eb3-aa5c-c90a700eb191 CAID:CA401366522 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 219f5e33-6c21-4251-be77-60d7eab7865c CLINVAR:1695383 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fb97861-4872-4d71-a637-5bdafbc9f2d3 CLINVAR:1695383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55abdac7-7c9a-478b-8215-84d6d835e426 CLINVAR:1363605 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5667412-6788-42a0-90fe-55b9970d6404 CLINVAR:1363605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dcd5972-a237-435e-a4db-b1ae1f618e9c CLINVAR:1897839 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c205d7ae-e1f3-4647-a6f5-b4aea8a8547f CLINVAR:1897839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8959351c-ed8f-4ca2-8f2a-c60fd6d79061 CLINVAR:2024194 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 116bf02b-f4b6-4be9-a42a-12e8e5100018 CLINVAR:2024194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea49a005-1bd8-4790-9687-62ce977a7d3a CLINVAR:2018650 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c55ad25-f32f-4ae9-8eae-5e82c7fad8c4 CLINVAR:2018650 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1026255-2191-4632-8d0b-68a8b898e35f CLINVAR:1996224 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ee10649-2816-4a3d-aed8-d143e837308b CLINVAR:1996224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c2f36db-fd52-4644-8249-a8137dbcb9d4 CAID:CA1139771135 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d95e076-1372-43cd-a918-22d3cc4641d0 CAID:CA1139771135 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d40dfcfa-dd88-493c-ac1f-e858d23db6d1 CAID:CA410203348 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e188007-3199-47d5-bcb1-d1de6edf13d4 CAID:CA410203348 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1417d5c8-a835-417b-a943-e1d0481f6d83 CAID:CA1139771058 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86f8cb0b-7a9b-4051-aa6e-87d4a70cdac5 CAID:CA1139771058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c35a08bb-12f9-48c3-a5ca-f71a5ac38c33 CAID:CA1139771067 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8166e9d3-ac3b-44c8-88d0-300d44995986 CAID:CA1139771067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d7b8c4-9cc3-485c-96ae-07056e33c3d5 CAID:CA1139771059 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d08a83d-6b60-4410-8b25-31888930f677 CAID:CA1139771059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a4b9832-3145-4f84-95d8-68c4ba7b1440 CLINVAR:972746 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5850b203-b90a-4d81-be65-a6cb24fc4c2a CLINVAR:972746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88755f5b-ccdd-4400-96ef-1c6f919ae784 CLINVAR:371277 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb4ed582-4f29-46e1-a4f2-46541f6120b2 CLINVAR:371277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d61048-13e0-4e0c-addc-97343a2ae9b8 CLINVAR:1219617 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2210259d-6ba2-49fa-931e-f63c126085d4 CLINVAR:1219617 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ec8eac-8b7f-4c6b-837b-e55980f0a4ec CLINVAR:555998 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac3ec568-4d82-4978-bce3-a874428e2a13 CLINVAR:555998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 326113b4-0551-4e63-9f9d-5b3a7a1ac54e CLINVAR:370278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee6cac2a-4ff5-4c02-b313-36f98c27d564 CLINVAR:370278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584677a2-4654-47fe-a585-84c3add5ea22 CLINVAR:692768 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3945db1e-db4a-40d4-a398-48cb509b3cf4 CLINVAR:692768 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb48ab3f-da96-4ea8-b182-48de5d3652fd CLINVAR:42227 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62987d0c-b25e-467c-b5b4-46ed95cb0dfd CLINVAR:42227 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5c36fe8-5148-4e1d-931a-262ae120ac45 CLINVAR:9719 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f069cfcd-f761-4c12-b642-9c6e988c9cdd CLINVAR:9719 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23942e2f-bacb-43c8-8a97-e7bc0f8215e1 CLINVAR:9697 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1587607d-0eaa-43e2-ad65-9dfcd8124281 CLINVAR:9697 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ab6899-ae41-4190-ad7e-3a393935322b CLINVAR:550716 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac2e4857-d834-4458-9fb4-7b96a9e19801 CLINVAR:550716 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68751062-12fe-44f0-9168-3e2908c5bd84 CLINVAR:188480 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cef8d13-7e77-40fb-8480-543c97bec5b9 CLINVAR:188480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1d1623-af91-4966-b707-5d95621995f2 CLINVAR:971945 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2990bc18-c6c2-4ec9-9ceb-e1aafdc481bd CLINVAR:971945 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e452664-c0c3-4d5a-9c0c-c1ace224e0a1 CLINVAR:280956 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac0061d9-db41-4346-9575-670e7c2cde9f CLINVAR:280956 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1f68cad-1876-4052-a91e-6eda94ff73fd CAID:CA415088272 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4825477c-7243-465c-8ed4-4c0fada291fe CAID:CA415088272 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f46ad0-db8c-4cce-b93e-75f4a53e1863 CAID:CA645287847 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 370a41c2-9181-46ee-8aa4-7058195bad44 CAID:CA645287847 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c524f3-17e5-45bb-86c3-26e897581855 CAID:CA2582131482 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ea454e9-fcab-46f3-adcc-d04a14eb38b6 CAID:CA2582131482 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b990ad75-223d-4136-a000-395405bba128 CLINVAR:44729 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 576e8461-8b04-41fd-8383-8569baa0d95e CLINVAR:44729 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e15bb16-f21d-4671-af05-22e0c8dae122 CAID:CA415077715 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e11705eb-0dfe-4583-9813-d7f02856fbff CAID:CA415077715 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80bb4340-e6e2-4a7f-b758-b1620fd4ba3c CLINVAR:2290132 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7121ed5-5eff-4a46-a2b6-6401d555f8b4 CLINVAR:2290132 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d9bc1f6-5645-4665-822d-cac14f951bd8 CLINVAR:551915 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9688f68c-88b2-460a-ab25-bec6a995d2ec CLINVAR:551915 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c441661-ffbc-444c-8f20-79fb15cda550 CLINVAR:2070085 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 512339f0-f2c2-4ef6-ba14-3da297d105d2 CLINVAR:2070085 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e2fdf0e-68bd-4b2a-b3eb-7037595f7469 CLINVAR:3066433 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94c85581-1a26-4550-9698-9da9e6a3641b CLINVAR:3066433 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb37f350-d679-4a12-87dd-983f0aac2515 CLINVAR:11697 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed83d1c9-f36a-4868-9b40-9a156b14cafd CLINVAR:11697 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5840b72-1bfd-45be-bc16-f4e22d206abd CAID:CA415086358 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f143d5f-cbb0-475a-a56d-0991de15a969 CAID:CA415086358 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97240626-1018-4d18-9fde-200cb5b835cb CAID:CA415086460 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6016753a-f8e5-4b7a-b6af-4db69277e034 CAID:CA415086460 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cb83dae-7b50-4635-acf8-80dd23ebaa0e CAID:CA415086677 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51e9b228-f5f8-4136-8cf2-98c4d8498efa CAID:CA415086677 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a22ac99-d2c6-45ad-a4e5-1ad6ada5f221 CAID:CA415087081 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 811b9297-ba90-4995-ab77-d6fa53293df9 CAID:CA415087081 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88468636-0ca1-495a-b944-79041875ff91 CLINVAR:3066439 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66e3c136-3107-4f66-8ec6-978266998f2f CLINVAR:3066439 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29e6a6ad-61b7-4fdc-ba24-be3dce7a9c27 CAID:CA2466438179 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4cfb3db-1784-4e43-94c4-8d908d9bfb52 CAID:CA2466438179 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca36627d-1895-42be-bdd1-8110a9ef48b1 CAID:CA415086699 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd2979dd-0921-42dc-b9cb-26daf5200c58 CAID:CA415086699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f7659d-5c29-4adb-b293-6e25317a3cc1 CAID:CA2580617569 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98633d49-5bdb-4809-95bb-71c48920a6de CAID:CA2580617569 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d17d1600-a4e5-40a0-a871-bcb86e8e7aa9 CAID:CA415083128 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60e7a5a1-59db-4f0a-8e72-ce119e699445 CAID:CA415083128 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7781a2e5-f99f-4e24-abf3-ac17943f6a2f CLINVAR:804101 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1b3080c-372f-4b7e-811e-e42b4e6cb211 CLINVAR:804101 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dc2da37-3544-4d6f-b63e-31db731cfa64 CLINVAR:1802549 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0922cf2-8348-48fa-b14f-0926d6d75302 CLINVAR:1802549 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 289a6cfa-76b7-44e5-97ee-fae82de25f4e CAID:CA415077156 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11ccd154-d6e8-4727-9ed9-32b3f055a778 CAID:CA415077156 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 548f72f5-8e06-4403-892c-4833958ec448 CAID:CA2579985607 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6220806-6739-4215-98e3-d56958fefdd4 CAID:CA2579985607 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbadc2df-c635-4431-9d13-872961cff7c8 CAID:CA415075833 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b184808-516f-4d60-b067-b169b5190c23 CAID:CA415075833 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 349e479d-2794-4e59-b754-239f78b51bf7 CLINVAR:1256306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9707739-4aca-4517-a4df-b84e74014ad0 CLINVAR:1256306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2115327-369d-4c15-a9c2-eb3fe62fad87 CLINVAR:585920 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e9f1d84-9dff-463f-8fd6-97d9f175f163 CLINVAR:585920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8935aa43-077f-4934-acb6-e9daf890f258 CLINVAR:585907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55e5acfe-1b22-4efc-af33-b00330bf90b6 CLINVAR:585907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fcfba29-f0e2-4206-9c61-94d205560306 CLINVAR:447378 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04766feb-4702-4481-9699-db8c4a5e910e CLINVAR:447378 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dfed37e-3441-4640-ba1c-2b7d35a94d86 CLINVAR:36170 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89a36792-87aa-476a-a293-bbbe25417c73 CLINVAR:36170 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 563894df-488c-4f02-903d-2a93fc8111c0 CAID:CA367400138 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d7cc723-035d-436e-b6f8-083fdfa8f6c7 CAID:CA367400138 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cd6819b-b45a-4cef-bb28-cda4fb89f19a CLINVAR:393447 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6201c47b-082e-4f5f-8839-9badfa3980a4 CLINVAR:393447 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cfa764c-3a92-4501-9d0d-ea89829da5d3 CAID:CA367396861 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 603022b2-83d9-4c1e-9cf5-47735aa37316 CAID:CA367396861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f931b25-4dd8-4196-96bd-f3170cca742e CAID:CA2740067583 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c27e114-29f3-47f5-883c-c9b3aa402563 CAID:CA2740067583 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c05f68f-1828-4265-ac5f-aa990c642ac5 CLINVAR:1683587 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5e62a92-7b00-4c6c-b7f1-1b7126e2b516 CLINVAR:1683587 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1480204-8a06-4df3-9bc4-63b44ff4d354 CLINVAR:800346 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61ebf27b-04d8-4eef-88d4-ba1fa5e1e1fe CLINVAR:800346 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb66ba61-abac-476a-8ab4-cd7015e787dc CLINVAR:496628 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 197b6abe-a822-474e-bade-c40d5df976da CLINVAR:496628 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5299f347-3238-4457-b8fa-02e5de77c098 CLINVAR:36718 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b19c417-7700-496b-b04a-4602635db79f CLINVAR:36718 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80a477a-51a7-4367-85db-fa44e33d303f CLINVAR:36717 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bfb74b0-b89a-4395-af8e-8e4d0cd00e7a CLINVAR:36717 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43e14e7b-d68a-4507-836d-3572dca64d8e CLINVAR:304553 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 716151d5-72d5-4e90-b032-6c94741ed2cf CLINVAR:304553 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4bd0501-9ead-4804-a99a-4980b4cf3c92 CLINVAR:496624 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a365d6a3-f9db-428b-ade6-893d828f708d CLINVAR:496624 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84063772-b73a-4f35-a6b1-7f2d8c51752f CLINVAR:971474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78ceb0d3-4afd-4cc8-9483-f269aae3abb5 CLINVAR:971474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5241dff6-ed91-432c-9d0d-ddfca8aee494 CLINVAR:1015912 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7408d772-1b1f-4c54-9ad7-3a1a0dfc0e95 CLINVAR:1015912 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e92b37-da00-4355-ad3f-4dbbe6558220 CLINVAR:1035293 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a5c6520-669c-4c61-855d-699f737f1c0c CLINVAR:1035293 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0088fa3f-8b17-417a-8aa7-3734f06b155a CLINVAR:661326 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c9f7b11-d28d-4691-bd53-fb14445ca11a CLINVAR:661326 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d800be99-ddeb-45b2-819d-bebf394ba6b1 CLINVAR:2062424 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c05434d-57df-4b4c-8c77-c9550012a5ec CLINVAR:2062424 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7891df91-decc-4548-ac81-b86980f7fc26 CLINVAR:958156 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b30392f-44fa-4019-be83-894ef43d856d CLINVAR:958156 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ed3955f-6ee4-43b2-a6e1-427d624a237e CLINVAR:1936229 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c6d1f2a-6d46-4c47-abbb-d4878679b836 CLINVAR:1936229 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62a4862e-d538-4d72-9c63-f524d0df79ba CLINVAR:1199335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc35d44b-db09-468c-b335-9863030a7000 CLINVAR:1199335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be64b3f-316a-493d-9840-365202b42d72 CLINVAR:860679 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1640f04c-cd0a-454e-90a1-f4121433eba2 CLINVAR:860679 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c040e8a7-5804-4cfc-98d9-2eb97c547444 CLINVAR:9723 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ad221f0-5ce5-4f6f-9baf-66de2ad6fa5c CLINVAR:9723 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b04cba56-c8d1-4fdf-91f2-169436ea06be CLINVAR:2138345 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d487188-d43e-4e3c-af0c-612f5c9d030e CLINVAR:2138345 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f3308cf-0245-41d6-a3c3-7e8cd3e0e86e CLINVAR:134574 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8baae8b0-2927-4f01-9e6f-74da2e473942 CLINVAR:134574 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e634dc-2be1-4eb3-849e-a20a3ed9b966 CLINVAR:1406981 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c407f34a-1afb-4314-aa4b-f3c8e47f2762 CLINVAR:1406981 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b55291-736d-4c28-adee-b9ca449980b0 CLINVAR:1068640 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 796651ad-ff96-455d-bb72-40942c429775 CLINVAR:1068640 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ef5aa63-cecd-41c9-bfd0-60049317bdf5 CLINVAR:714463 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2019e421-afe8-43f4-b751-43cc7c47a16d CLINVAR:714463 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5c090b-a7c3-48c6-b956-2b222b357a8d CLINVAR:994900 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 673f8cfd-2c19-4a9c-973f-7d2e4ba4835d CLINVAR:994900 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdae6ac7-7e18-414c-a1c4-6a0c6044ccf6 CLINVAR:524154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32a8fc0e-4b34-45ee-80b4-0df960c2cef1 CLINVAR:524154 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8408062-dd5e-4e0b-b42e-08e3241e6f77 CLINVAR:3068533 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a02cc6b2-3132-446c-a599-c7f5d1315405 CLINVAR:3068533 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb3777cd-51e6-4e1a-b2a9-accaa1477d72 CLINVAR:156152 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ba1fbaa-d759-40ee-b176-23b267296bd6 CLINVAR:156152 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a7ea5a9-fffb-4131-ad08-fab07073d975 CLINVAR:372382 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f457163-f2e9-40d1-bb44-919273833b6a CLINVAR:372382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77e2a25b-e4bf-44df-ae4e-a53676de6af3 CAID:CA409103960 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43177b99-911d-4165-bf3d-fad761db256b CAID:CA409103960 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d9e91e7-495c-4e74-aaa5-c116e70a64b9 CLINVAR:546494 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c49cc67-ba07-4df0-ad2e-e42485118a2a CLINVAR:546494 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29e7bc33-38ba-4d5c-b140-8b6ccfb9d631 CAID:CA409103971 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 499cf840-d5bb-4f01-8388-d686ea0ce734 CAID:CA409103971 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987c0bc8-318d-4103-a55b-af5cedc2f143 CLINVAR:435436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6794dc63-cfa2-40c6-9163-4671f519e74f CLINVAR:435436 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 328e1688-71a9-41de-bdbe-5d2652697295 CLINVAR:520895 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 557339d8-8868-4abf-855d-822dae692ac9 CLINVAR:520895 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dceb7927-41c6-4b37-9ccf-bd7c10accfa2 CLINVAR:430844 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c37cf67-cc09-4909-914d-ec569134bbb1 CLINVAR:430844 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81936a30-ba4a-4db8-bb60-ae42c0979746 CAID:CA409104280 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 089542eb-d189-4c14-92ec-f32ad7ae07a0 CAID:CA409104280 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7432c40-1ee7-4ca1-a42a-6e3fbf116991 CAID:CA409104356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb8ec0f5-6f4a-4256-9a2a-5fa9dd0d8d54 CAID:CA409104356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 354e5cc7-01ae-4849-b5e1-0d0da493a8e7 CAID:CA409104394 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a69dda1-8bf7-4120-8190-63ca17ade95a CAID:CA409104394 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2fc02ae-0330-46ef-a1f0-9ce8e467619e CAID:CA409105356 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6928af3-c9b9-408f-bcb6-bb8ab490644d CAID:CA409105356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fff77097-3bd7-4ceb-a4a7-2140b99e2684 CAID:CA409105413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 862a2035-92e3-4b77-8771-4880462fb27d CAID:CA409105413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d0c1ac-1fcc-4e3c-9cfb-90aff17b6cf2 CLINVAR:995121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 243c0f36-03ef-4c5d-9313-a9e5da71bf66 CLINVAR:995121 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98bce444-b215-4ae3-b1fe-5f1bf1c1fe71 CLINVAR:1457657 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67f5385a-4f87-414d-bc30-84e06b5ec859 CLINVAR:1457657 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18e82b93-b895-4c59-b30b-34de6954b870 CAID:CA2573106197 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7855b403-0274-4967-9957-2c464be87311 CAID:CA2573106197 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e604012d-8be5-4180-910f-33ac1061adc4 CLINVAR:450787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e36975e1-b92d-4c35-a11f-c2cb6a9cfcbb CLINVAR:450787 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240f9d7c-d60d-4c87-9628-3435a922eaf9 CLINVAR:36364 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f275cd0-36f0-4a12-b3a4-79eeaba2ec88 CLINVAR:36364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19a9f708-c668-4385-9213-fb177cb16880 CLINVAR:435439 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f5e72b1-b901-4cac-a21f-0863a0012331 CLINVAR:435439 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72bcbdc0-ad2a-45d8-ad47-3b65097390f8 CLINVAR:587398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5732d011-810d-439d-ac44-95e2aef6d39c CLINVAR:587398 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac0d2321-2397-4421-b0a1-77ecc0337ea3 CAID:CA9870374 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2e0c739-4615-4b43-beb7-55f9b25aefe6 CAID:CA9870374 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b341ea18-82e4-47d0-adb4-d90260ea7788 CLINVAR:447524 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68f1127d-f3de-4818-9cd9-68987cdfc0a1 CLINVAR:447524 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 178aeb48-d9c9-44a9-9ef6-0e51e020aac4 CLINVAR:804918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd7c3f07-4fbc-4e63-bdfa-1e1898300026 CLINVAR:804918 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e74a4f93-047e-437f-b113-21123d07a660 CAID:CA409108073 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 992a0114-331b-4a1d-b7d2-4e8afe49f988 CAID:CA409108073 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea0ab5e-1ec4-4e0f-9c33-ac91dbdaeb41 CAID:CA409108074 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd82a709-b592-49ae-befc-4238a47ffe88 CAID:CA409108074 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a2036e9-9a96-49f8-94b4-a68508c076e5 CLINVAR:447513 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c4bdb7f-3395-40de-ac75-1cef910a812b CLINVAR:447513 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba275fe-9fcf-4a01-8024-58fe86c6a572 CAID:CA409110425 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b094efe8-e2ec-4a44-a627-be2cf149dbfd CAID:CA409110425 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72555389-8875-4c66-9ef7-29d6cbc7d122 CAID:CA397725976 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5308f66-a0b3-4df4-bd02-35758319c729 CAID:CA397725976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2d17edb-e956-40bd-b8cf-889ae1f7e5bf CAID:CA415078666 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0eb1e71d-6ebe-4cf1-aeba-455f3b6fc523 CAID:CA415078666 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c407642-99ac-48b1-98a2-204294ff3497 CLINVAR:2583099 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 497625e9-5675-4dde-a242-10e18221cbe1 CLINVAR:2583099 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a128bf2-359d-4405-ba64-2ce395a8c317 CLINVAR:428204 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02b58757-779f-4adb-84bb-6c1b6fb628ee CLINVAR:428204 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cfe0a12-233e-4a05-8a2e-365dab7e1385 CLINVAR:854960 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13d216e8-8ace-4649-9e88-d6856ef1a0ea CLINVAR:854960 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf1e78b-1dec-49ea-9b17-a12b20cff86a CLINVAR:1406308 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f8f6b0e-7569-4ad2-9a1c-5b994314f535 CLINVAR:1406308 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a9d81b-e0e3-4aab-8ca1-a7e247b4a448 CLINVAR:428222 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b104041e-6321-49ca-a69e-48ab956f5cbf CLINVAR:428222 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e138bacc-09e5-47a7-ae4e-a7f1aee3f3b8 CLINVAR:198683 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8cf23db2-744d-4c71-95dd-3a384b96cf92 CLINVAR:198683 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 953aa6ee-a587-48a4-9beb-dc44c116cc0e CLINVAR:166643 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52bedcbf-408b-4dd1-9e04-a85871ccf268 CLINVAR:166643 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 555505b8-f277-44b8-82fd-020366b06b54 CLINVAR:952947 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6fb149b-27db-4ff6-b68f-5d7be486cd1e CLINVAR:952947 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0201b142-e6a7-40bc-8b82-34ea9039db63 CLINVAR:1684354 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14847e5d-75b0-4015-b43b-3b8789357a8d CLINVAR:1684354 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717a7b01-fc3b-49cf-8f07-5d0be7a2d31a CLINVAR:1695377 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cb1e3d1-2728-4c7b-8d58-6e4ffc519ff5 CLINVAR:1695377 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41fd5e41-58ca-49df-8b92-4cef781e7540 CLINVAR:627020 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7582fa5-d9ac-41a5-8813-a729177b9f84 CLINVAR:627020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 045d9ffc-300a-4967-924e-031d0e9f8e44 CLINVAR:1684321 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8867d24-850c-4e25-9921-1990c0863ed6 CLINVAR:1684321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a972e56-1e35-491a-b289-15c66a0ce6be CLINVAR:1684322 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26049c9a-39fe-4616-86e4-222b5d427e41 CLINVAR:1684322 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 300ea7ba-9cc8-4bb0-8a5a-de30efa6f212 CLINVAR:932221 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44708bef-6e9e-4de0-aeed-986ebb16411d CLINVAR:932221 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6157c668-5250-40ad-ad34-d725c4ece4e9 CLINVAR:995370 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ce8f83c-b616-4313-bbc7-fa5f6641c8f8 CLINVAR:995370 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26bf34db-1b84-4416-b357-6346eec84eeb CAID:CA367401928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d12da0b1-9a16-41cd-9bf9-953c92c51fe2 CAID:CA367401928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen face928d-3c45-4ed8-a51b-d59aee1d5fb5 CLINVAR:1741488 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3302ad60-fa72-4357-96f9-732e16ddf2ba CLINVAR:1741488 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 707495c0-682a-4f4d-8965-04e0f8300327 CLINVAR:36221 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42815369-16e2-4509-9bc8-55d8fd909a8d CLINVAR:36221 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16f0818c-3f2f-430b-bbf5-10c8b1f91deb CLINVAR:36223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdec65bd-cc7a-49d9-9e07-4d89812303c1 CLINVAR:36223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 814d158a-f25d-4a06-9a02-34abf85526fe CLINVAR:447401 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dda02bae-ec06-4f09-8091-3f4a7dc4ab83 CLINVAR:447401 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7638c61-e4dc-4ca4-a631-c7a78c26f6f7 CLINVAR:283358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef74e5fc-e0a5-478f-9c29-d810d353f662 CLINVAR:283358 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51b503bd-14e8-44f3-8428-70c519fa6cc0 CAID:CA367401376 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b433c235-fb02-4f36-8546-8374c2b6efa4 CAID:CA367401376 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a549616d-d1e1-4d0e-a5cc-ac7333cff8be CLINVAR:2431839 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee5b586e-0641-4d51-9945-c29ba37f3016 CLINVAR:2431839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ce8ef8-cd64-427e-8276-1a2b6dc7691a CLINVAR:1371376 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a8acc2c-61be-42ee-93a6-71ebc0078f4c CLINVAR:1371376 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4942793d-694d-4600-a8fd-9ed10d9662f3 CLINVAR:973969 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5b2d8dd-3010-44b3-84ef-9b38edfaa1b4 CLINVAR:973969 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52196675-247b-4ae4-be6a-01ba90bcc231 CLINVAR:1452579 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 966680db-9da4-4155-a5f7-c4f1b35ef48d CLINVAR:1452579 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83f918c4-0df2-4f84-8dec-e4c02cfa68d9 CLINVAR:98821 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7ec2839-4a08-4b7c-9c91-3255841ea719 CLINVAR:98821 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a78e8a13-4da7-46af-ad9e-15a57a5d084d CLINVAR:1212838 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b3d234d-d981-4856-9f0b-44ea4b306aa0 CLINVAR:1212838 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d069cc-8cce-47bc-a98b-fdde5f6a03fc CLINVAR:427868 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebd6ba03-251d-4c1c-a8ae-d7c7b67755aa CLINVAR:427868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ddef35f-b9e5-4363-9246-5c949fe3c93a CLINVAR:98830 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f64d43f-b764-4367-a213-9e203255b10f CLINVAR:98830 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 939a5b89-1c28-4f35-b424-add53eeb1626 CAID:CA340742683 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5fdc36d-e5ce-49c7-a7ed-f2cc7e9ea8d7 CAID:CA340742683 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9393a494-fd88-4ff9-bdd3-a1c7a39b43fe CLINVAR:2131688 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7b576e6-bab5-489f-90ad-b454852fba65 CLINVAR:2131688 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9639f5bc-cc4c-4509-ba87-3a55cc423310 CLINVAR:850613 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3153447f-bf46-4826-9dac-05625760c28a CLINVAR:850613 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 500cd03b-b05a-4b82-803e-397793bc7431 CLINVAR:1452575 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9290a17d-f30d-4c7f-b49d-c39a1791a1cb CLINVAR:1452575 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468f5f30-4c97-416f-9587-0d43ba176bc8 CLINVAR:3233349 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41b910e8-bde3-449c-bc85-d767ea4bb57d CLINVAR:3233349 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 293106f5-e791-4277-958c-2ad63a450562 CLINVAR:1321180 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edcb9972-80c1-40eb-b257-d50b7a9dee81 CLINVAR:1321180 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45def5b4-6494-41c2-997d-76b4620cb459 CLINVAR:813222 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cd25012-7ac1-445a-bd93-0ab2d547bbde CLINVAR:813222 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8dd29c0-0d49-4180-8d1e-08a261315893 CLINVAR:1384701 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0ee7955-f190-4877-926b-9339f93cd77b CLINVAR:1384701 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fae2362-1932-484f-a29e-e9ed77546be6 CLINVAR:1445004 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcd85dfb-58b7-43fc-b0a3-235fd74d501c CLINVAR:1445004 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17d9f2dd-9cfd-4cf4-9fd7-bff9599a9ee8 CAID:CA340750344 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2aa34e82-88ab-4f4c-96ca-630b51bb3880 CAID:CA340750344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35265d19-b476-46db-8280-52f0bd725f26 CLINVAR:559523 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1e26360-e9b2-43f2-9ec4-4f0808b4525c CLINVAR:559523 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f710a3-f217-4731-8115-9d879960dcad CLINVAR:98873 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa6b2500-73b6-4b1b-8b8a-f64484daf849 CLINVAR:98873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f39c72c-e5e5-44f0-9337-f5b084c0ce45 CLINVAR:98875 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1656198f-7d01-4845-a3ed-fd386b37f327 CLINVAR:98875 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb95a42-858d-4835-86c9-da67194b44e9 CLINVAR:1074826 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d43193e9-a0b7-4169-8df8-3a3fbc976ff8 CLINVAR:1074826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64846eed-446b-44a3-aa66-7813922319e8 CAID:CA340750220 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3ceb1d4-526e-458c-81ee-676ea084a152 CAID:CA340750220 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c773d514-ba71-4ef0-82f6-d4d46b20fd0f CAID:CA2586966741 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e1a91af-9e0e-4464-8772-7a61d5854bfc CAID:CA2586966741 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e28ba0d-510b-49b8-b082-d943a0b4cc8f CLINVAR:437985 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d7e4e60-044f-4899-89e9-428b69f4a516 CLINVAR:437985 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 180637f2-6ea1-4596-ac32-c2656b23cf16 CLINVAR:556104 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 704ecddd-e6f1-4bb7-9a77-38710cc883de CLINVAR:556104 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80af86aa-017c-4896-b535-7a757b3e12fc CLINVAR:98891 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9a54ddc-bef5-441e-aaf6-2732ba276f2d CLINVAR:98891 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b327617-3754-455f-b706-050bf54b2aa6 CAID:CA2695202184 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e427263-b2b4-419c-a900-5524663e7cc7 CAID:CA2695202184 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e467ed82-b8ac-42d9-a9d7-be46ee6134ba CLINVAR:98895 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d8cf8e0-edfd-4c28-9c81-76ed518174be CLINVAR:98895 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffd3da0f-98b7-4b20-88e2-659e6826d428 CLINVAR:1679125 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3860210c-3812-4e05-9292-5009cce54332 CLINVAR:1679125 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f6d6815-9d85-416c-990e-3f4a458e412a CLINVAR:98902 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d48b8aff-1a67-4aa2-b5ed-7c7d850ac588 CLINVAR:98902 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9981d94-44b3-4564-b8b5-3d621f702902 CAID:CA340744560 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42b985c4-0b56-4eed-861f-d19bc8f8bd81 CAID:CA340744560 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce075385-a737-4266-ae39-cc72295fb987 CLINVAR:971195 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43ffc78d-ac89-45dc-842d-03d6a1de8daf CLINVAR:971195 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16161862-5f4f-48c9-91f8-29a46dd0fb23 CLINVAR:2098676 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0eb8c577-83fd-495f-9495-219fb8b985cd CLINVAR:2098676 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367a27a0-4859-425e-a3e0-f11dad56cb0d CLINVAR:1515226 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 532646bf-a07f-4374-b08a-98cf6514d596 CLINVAR:1515226 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e9fb64-9294-4bd5-af47-326036f26045 CLINVAR:1348464 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72981338-78e8-4510-be5c-b97e5f5ee1c0 CLINVAR:1348464 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8467622e-178b-4671-beda-a5c0db1bc1f1 CLINVAR:2269371 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32026c1c-2990-4aa0-8bff-3f4dfb07e98c CLINVAR:2269371 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56856159-43b6-4ccd-a062-4c6cac79656d CLINVAR:843919 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44d31d5c-bcdf-4b49-9541-b4ac1c83a321 CLINVAR:843919 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b14df2c9-5c5b-43c8-be0d-fbfe3ca5dd14 CLINVAR:2079766 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 520757a8-c0e2-4247-9781-5c6346412b19 CLINVAR:2079766 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 701a9bd5-3f86-4138-9cb9-d89fc2e96920 CLINVAR:2199784 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f28bc88c-51d8-42f7-b2fc-0b35e1517e73 CLINVAR:2199784 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2762f640-01c0-4067-8a8d-f2075e2b7c62 CLINVAR:1038658 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d04254d7-b071-416c-b0ee-9c9205a1ba2c CLINVAR:1038658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a00aec71-e379-4d09-a155-0040cf1b30cf CLINVAR:1195941 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8528b5d-43a0-4254-a3a1-1de90a267034 CLINVAR:1195941 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d269cb2f-b262-4e53-b6f4-0e758b23d896 CLINVAR:1507601 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f51bf45-4403-4ba4-8c0e-ebc850c6cb11 CLINVAR:1507601 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b34babd-5b9d-426a-a51b-127a29800c7f CLINVAR:1357028 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e60c18a4-1c15-4bda-ba44-bd21660a2a11 CLINVAR:1357028 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab2db67-c31f-4199-ac06-c9b096a92d49 CLINVAR:950101 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ec04cdb-8336-4a85-a3e2-f6517810d4a0 CLINVAR:950101 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c117af0-8167-4eac-983b-ba85eb75209b CLINVAR:1626393 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d19efd37-c2ed-4077-8600-00dd4e889397 CLINVAR:1626393 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bec22b7-6290-4647-b12b-181a87608f2e CLINVAR:2009484 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6eecf4ca-f1fb-4116-ad2e-adecc8576c9f CLINVAR:2009484 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffb48b2a-0808-4d03-b793-8e1591277dc5 CLINVAR:845973 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1abdeb4-a773-41c6-a0f4-c5005d907c20 CLINVAR:845973 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0f8af14-b35a-4150-8eec-88cc00886be8 CLINVAR:897016 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da6cb64a-3fe2-4d51-aa8f-d15c57e7fb0e CLINVAR:897016 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf87d6d-d221-450a-a0c2-b97505a1cb1b CLINVAR:194316 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9aa40860-52bb-47f3-96c3-a5b4f0711682 CLINVAR:194316 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5e22165-70b8-4e97-8158-c2842b0b55ca CLINVAR:541723 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8a68c3e-bedd-4025-8565-06b1973ee01c CLINVAR:541723 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc0e7b11-1f5b-403c-9906-de9e50a5b6d7 CLINVAR:36199 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd493525-ade4-43d6-9280-e3b904cb041f CLINVAR:36199 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58f81c2d-31b5-49d4-a974-d87946b6b125 CAID:CA367396925 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2211c380-dbe2-4342-b7d3-5d845c548dc8 CAID:CA367396925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e771348f-7034-4727-abd6-8f05f2addfeb CLINVAR:36195 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d94afaa6-42bb-4123-b607-8dda0c4de2d9 CLINVAR:36195 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f39d7e-550e-47a4-8d9f-66aa20553ba6 CLINVAR:36194 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7434c2b-869d-4f10-b2f9-ca78241d200e CLINVAR:36194 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46b929f-34d3-42af-909d-946a4490a55c CLINVAR:585912 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7999f897-114f-47c4-ae8c-9a3ab5788256 CLINVAR:585912 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a814b5-4ac0-421c-b4ab-1a6fc96bf1e5 CLINVAR:36189 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c73222e1-e09a-42bc-9444-1c176592106c CLINVAR:36189 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24e78733-9465-4fa7-ae70-13fdb4263da7 CLINVAR:447389 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d60499a-6b65-42f4-88ec-400374bde811 CLINVAR:447389 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd68a9b7-8fbf-434f-a328-59c40d54da52 CAID:CA367398282 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7a37fed-a155-470b-aa78-1d57c798a3e2 CAID:CA367398282 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f628f462-ae6a-49bc-865a-c402b13b7d38 CLINVAR:2734988 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40a408f5-41b8-4ed5-a666-c0a22215b2e1 CLINVAR:2734988 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d90d2ca2-6190-43f4-9a89-7a41b2493db9 CLINVAR:447387 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05ccf1fe-9714-4ccf-b6ae-2756f0c77e18 CLINVAR:447387 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80dc80b-922c-4129-add9-2786ab80c436 CAID:CA367398289 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 135e56ae-8bfa-47d9-8485-01d98324a37c CAID:CA367398289 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f3769c3-c8b4-436b-8ac0-48587636ef98 CLINVAR:447386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef9127f4-fc12-45dc-b9aa-d3e443231290 CLINVAR:447386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8f5f819-48b1-491d-a32b-8be5fc7d31ed CLINVAR:3233995 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5690341b-2eaa-4844-81e2-e75277e90d65 CLINVAR:3233995 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79494182-3a83-4f68-947d-8fc80ce3d5a8 CLINVAR:1472875 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39efb3ae-7c8d-4090-a9ba-e99b306289b7 CLINVAR:1472875 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1374158e-7576-4a00-aa05-e06909192dee CAID:CA367398311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf358600-5536-4730-b106-6601f55b4322 CAID:CA367398311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa240d9a-bf3c-4528-bc2d-6dff54db4496 CLINVAR:1303094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25927c25-3007-4b34-95d3-ba744e4a22b2 CLINVAR:1303094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0fe34a8-93be-4c32-9b45-4d4454ce2c5e CLINVAR:36183 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b223134-1a3d-4e2b-9931-3c432806e4a6 CLINVAR:36183 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9482ba2b-f1c4-486a-90ec-69fc8a2b5780 CLINVAR:36184 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cc85747-d60b-4da1-8134-c2ea6deb7ccc CLINVAR:36184 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eeb4914-d367-4c09-9459-add0f70b5f4d CAID:CA2580610955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cd4f9ab-1446-493b-9f8b-39f92b876f52 CAID:CA2580610955 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92d4c6d-3196-49b1-b447-cbac734c687d CAID:CA367398660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d51638f7-8651-4a53-82fe-85203a2a8b23 CAID:CA367398660 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a060a01-35a1-47a5-828d-9c4fcbb06508 CLINVAR:3233998 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6bdf849-13a6-4886-858d-75af19fb606e CLINVAR:3233998 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a9b1f4-20ee-4f01-bd47-5ae06e449d5b CLINVAR:280892 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bccc9466-540d-4621-ab99-bb2a9315642f CLINVAR:280892 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a0ae98a-99b1-4032-b131-717a7521530b CLINVAR:36180 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f88530f-b5e5-4e9a-8ae6-18239741f5a9 CLINVAR:36180 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d61fad6b-32a8-480a-9e64-e3c36265e69c CAID:CA367398699 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f3a5dda-5bce-499f-b5b8-1d195a868220 CAID:CA367398699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a88da8bc-0f60-4c7b-8da4-bafec3dd2a47 CLINVAR:804837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2fbfff4-1228-444e-ad1a-6885c34c693f CLINVAR:804837 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa1bcd9-2ea7-4767-989f-37d071083d79 CAID:CA2580612101 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35907260-754f-417e-93f2-de4e6b1f6986 CAID:CA2580612101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8329b614-77e0-4507-bf0d-8a2da9565404 CLINVAR:219179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdcd2718-a6e4-4eff-9eda-763710246659 CLINVAR:219179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fca68c07-ab4a-49a6-b1bd-6ec17e5a82e9 CAID:CA367401894 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 591164e6-183a-4ff1-90cd-a24413407c6b CAID:CA367401894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 549c7001-62dd-45ec-9167-1be1c22921ac CLINVAR:2567920 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d9e0d0a-78f8-40a0-ab26-157c264f967e CLINVAR:2567920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 776a58a7-bf55-46f8-b677-a3377d7e0cf2 CLINVAR:1512780 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 479ac9ac-913e-4fd8-98f2-1d8c483fd455 CLINVAR:1512780 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7458540e-34e8-4c29-952e-17018550f712 CLINVAR:990457 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad949098-3d7f-48c0-a65c-f26fe653371b CLINVAR:990457 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e2f311d-e630-4a7b-a5b0-0d813ea10339 CLINVAR:1309924 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4e2d7fe-5cc1-4c49-8ed0-6406d590c2c5 CLINVAR:1309924 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfa715dc-0b08-4b29-98d0-4ad2156d0929 CLINVAR:898483 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 597a7556-0a99-43cc-a45b-4507d4645094 CLINVAR:898483 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2174056-68f1-44bd-884a-df95d51f0524 CLINVAR:8800 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0895f9cf-1a6c-4093-946c-21baf5eb5e2d CLINVAR:8800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86117aee-a841-4049-af58-686cee3a5fd5 CLINVAR:812796 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a902daf-d418-4130-ae44-eb6f9e6eaba1 CLINVAR:812796 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79609aef-0127-425b-9449-dca4b7ea361a CAID:CA409106055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69eb4387-bffb-43f2-92ac-b90f0704eca8 CAID:CA409106055 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e3513a4-15ba-40e7-a0a2-14ec0632d791 CLINVAR:304560 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cddc6b44-b2a5-48de-8c40-b70a80e6a192 CLINVAR:304560 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf8631f-ba83-49f4-9298-d7e11caadce2 CLINVAR:2301303 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83d1acec-d168-4b43-b3e0-59fbc9c7380f CLINVAR:2301303 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f62bfd2-a262-4120-b774-1ff3346fa6f1 CLINVAR:857533 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b634b2af-989c-4d60-9d53-9e3e10156443 CLINVAR:857533 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d497f54-0c21-419c-9596-c3f8e9c9a427 CLINVAR:658239 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 991ad0d8-0731-4f7a-8332-d8080df79ce5 CLINVAR:658239 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd648c5-afa5-4ab7-ae3f-5de401186f5d CLINVAR:879522 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7450d3d-8f6e-45e2-95ad-b9ba774b2e10 CLINVAR:879522 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482ab87f-76c3-4a5b-9393-19eea341a5b4 CLINVAR:990456 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcd20a8c-6804-494c-9e36-d14f480b9202 CLINVAR:990456 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5eec0bb-940e-474f-8a91-bd4193750774 CLINVAR:662119 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ba06b02-819f-4907-9227-33bbde51d67d CLINVAR:662119 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c485e11-ea3e-48fc-8b42-aac76cdd8080 CLINVAR:382795 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c953e19-dd1a-4742-b1f5-f02f2fab4a89 CLINVAR:382795 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 865ce897-ce2e-4dbf-8627-22660ef73963 CLINVAR:1015428 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99205117-fefa-4ac1-99c3-00bafecb97b5 CLINVAR:1015428 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4337a4c0-c4c7-4618-922e-7d62d00399aa CLINVAR:960745 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7212228f-5684-4308-8f31-dbd55fd7f48e CLINVAR:960745 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceaab67f-0adf-40aa-8b8b-1e7d61b49875 CLINVAR:2147602 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bdb736c-b485-411f-9b9b-c54252fa58db CLINVAR:2147602 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cc47f15-d0ba-46f4-954a-634a0f0ae075 CLINVAR:1696220 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca2c8dd9-d869-4680-b996-3777d329a415 CLINVAR:1696220 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fa17730-9ce6-4aef-89f1-98a161622f13 CAID:CA409106957 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f3ee281-5d2a-497a-83b8-5fcd98cf459f CAID:CA409106957 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8859ed51-7328-4274-90aa-05443cf1bfd1 CLINVAR:212810 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3587d3f6-4fb9-4a20-9258-0486b334301d CLINVAR:212810 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48b6e05e-f264-4f1c-88b8-ead3905e21c9 CLINVAR:8799 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd074dc3-4480-474c-a526-bc3226333f6d CLINVAR:8799 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01da0dc1-a3d4-4321-9b91-b002f5b8a02a CLINVAR:333645 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91420d6e-2741-49c7-9b39-eb4c9908e207 CLINVAR:333645 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7087ed04-e684-4af0-afe4-6614982593e3 CLINVAR:898486 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f61da73-9db9-42a8-a445-3f833e5f0337 CLINVAR:898486 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c048802-231d-43ef-b6b8-a583208676f2 CLINVAR:409829 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66023e9f-3b3f-4182-a2d6-58b455afd6c4 CLINVAR:409829 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b313865-4530-4a6c-b4d8-2704d6153cda CLINVAR:425943 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 195d0ea9-7bb1-4c00-81e7-16138887862c CLINVAR:425943 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da1fa82-3700-4de3-af25-75f43bd59335 CLINVAR:8797 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28dd5bc6-e3bd-4de3-b1b2-685482af87f1 CLINVAR:8797 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7ea76c9-0bed-41af-a713-254ad2beb6ab CLINVAR:425725 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a12dbeb-c302-4aa6-ada6-a2bdf4667a2a CLINVAR:425725 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b5cfa92-a6ae-4719-96f1-9a516902ec8f CLINVAR:8806 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b642fed-85dd-4986-9a26-2b687d5011c7 CLINVAR:8806 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed7ebb81-b9a8-4ecb-868c-8e3ed4524ae3 CLINVAR:228460 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7b0434d-7b52-4646-b640-ab072ff42390 CLINVAR:228460 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 613e726c-bcb9-4e64-a412-5671d7eb386c CLINVAR:425852 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4dd2f06-a5c2-472c-b1c0-469b1bdedfb3 CLINVAR:425852 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f1ac69-5418-473e-8b6c-f8ef2a8d075b CLINVAR:409828 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73fd3277-a8cf-4938-bdc1-6d67dd2bae7c CLINVAR:409828 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75d4960b-7d26-4c7f-8891-5682afd7deb2 CLINVAR:333647 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a929d5ad-3b1d-41f8-83a2-8da7ad50905a CLINVAR:333647 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a97a675-036a-436e-83b7-5f0f1427a853 CLINVAR:8813 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3682a744-5f76-4745-a4b4-814c75daa672 CLINVAR:8813 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9acf324e-e6c2-465b-bf54-a852f3cbb376 CLINVAR:623142 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef76934b-a196-4e78-8efc-3dfc7614afcd CLINVAR:623142 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22def4c7-a4c5-4bc0-a198-9b0674a6a41b CLINVAR:623143 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10d652b9-46c2-4ece-b102-cb26ad1fc882 CLINVAR:623143 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72e26bc6-9e2c-43b8-b429-1cb6f507e580 CLINVAR:425800 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c27e244-d4a6-40a6-8880-e29a95bc3d28 CLINVAR:425800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9156c87f-14f1-400c-b8cd-48823ac77273 CLINVAR:627027 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8d2dd65-f0a2-4b8d-9705-e8ff500a98e5 CLINVAR:627027 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff17c379-bf3c-448d-b04b-11cc5c685b32 CLINVAR:627268 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 515e56ac-da5a-4ce4-85be-b5d827b74419 CLINVAR:627268 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519022f9-9ce5-4bb7-ad11-ffaf7ad98652 CLINVAR:626981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de7c1676-e9c1-4706-963f-10d9f80c3b80 CLINVAR:626981 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25d74ae9-7db4-454a-b25f-e8c8380db62c CLINVAR:627284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72dff077-fb88-4794-b608-354fb6b8d491 CLINVAR:627284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47f6cf7b-97b2-4119-86c8-5c8bb3ed465f CLINVAR:2092257 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a332bcd-95cd-488b-a771-c23c3158f180 CLINVAR:2092257 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703861bd-3f4b-4f79-bc17-7b1e96523754 CLINVAR:425731 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33e92ef7-a52c-4662-af03-c68ee1229e2b CLINVAR:425731 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddf1235f-dcc7-41f3-b783-2a746a790ee9 CAID:CA400034189 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acf3b1bd-27c1-4e99-a9f2-e3b33bd639ab CAID:CA400034189 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207250a2-fe46-4047-92b5-9c910e5cf0f6 CLINVAR:626948 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf1b98b8-06dd-4122-84fa-b884b280bf4e CLINVAR:626948 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db4f89ea-5330-4a6f-9f37-363e76eb7a15 CAID:CA399803746 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef59d380-e145-4962-b868-067ff30b0ff3 CAID:CA399803746 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85a5fa93-f003-40c6-91f7-148f04ad8794 CLINVAR:1349574 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 329268e5-af7b-4011-aa46-c97080b4cef4 CLINVAR:1349574 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 860df8bc-0418-40d7-b73c-0c21a59233ca CLINVAR:36713 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c91c8789-c793-4490-ac5f-921f8848e5fc CLINVAR:36713 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f45ad792-050f-41e7-bb51-615762da3d72 CLINVAR:1365761 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c6e8e1a-893f-4bf9-a21d-7cb801ed088b CLINVAR:1365761 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fff0275c-1a96-40e3-a0d2-907e9eb2a4c5 CLINVAR:207024 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd371772-cdbe-472f-9e83-77187637cf61 CLINVAR:207024 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7320a6ce-cadc-400a-b08d-a15e81929870 CLINVAR:189929 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6fc8252-e5ba-42c9-96eb-f8783bbafe8d CLINVAR:189929 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98118f13-85c7-4e3e-bbb8-f2d6a38c12c3 CLINVAR:425938 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 528ef8a2-534d-4890-83cb-798e39e79292 CLINVAR:425938 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba76ae6a-6910-4b5a-8f29-5e2ea761f148 CLINVAR:1759366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10496f85-65df-4315-b062-7119d92a11e6 CLINVAR:1759366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0cd9892-237e-4f42-9189-e165bf1ff1bf CLINVAR:656642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01850769-7afd-43ca-ab0a-e23e395a743d CLINVAR:656642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcc19c7a-8b41-49c2-bdc3-ca171d50dd3d CLINVAR:850948 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42d14df6-2728-4e2b-b4e2-5fef1dfdb4f8 CLINVAR:850948 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92fa101-2d76-4ee3-8d3a-f16f8373213a CLINVAR:543562 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e891b0e4-9288-41c3-a910-e7e09c491c32 CLINVAR:543562 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89cabca1-4b01-4883-a02b-8b8d0f4dd447 CLINVAR:570615 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c24e163-edd7-4067-af55-8c91cc9f6980 CLINVAR:570615 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d4b4704-03c7-4288-99f0-772cf69220c4 CLINVAR:412143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05c4de04-baa6-4fd7-9f94-56257d3d9ba9 CLINVAR:412143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbc97ed2-9435-42b3-a429-7105e72a7a17 CLINVAR:652143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9a40aca-62d4-4050-b2b4-6c7ddf76fc2d CLINVAR:652143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b8b685-dd74-481f-8a18-a20c66774198 CLINVAR:479649 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53ee2e83-8e97-4e58-ac60-3cf4953add1f CLINVAR:479649 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c1e6913-7999-4027-bc58-14e142a800a4 CLINVAR:477204 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d086545f-ae4f-4b2f-a71b-9d71e3f94526 CLINVAR:477204 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe25edd-6dac-4054-9545-bf1c9e59f628 CLINVAR:1687238 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42c5a551-98e3-4976-8faf-cdcc4bfe5e65 CLINVAR:1687238 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3695c4eb-a31f-41f9-b167-209154a3904a CLINVAR:3235125 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26841454-7ab8-4c9b-ab4a-31728ef0e65d CLINVAR:3235125 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c210da14-f87e-402c-9e68-b3347740f796 CLINVAR:285157 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf76bb37-8ccd-4e3b-98a6-4f7bfa751389 CLINVAR:285157 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08a721ca-0fda-419a-91bb-59baa3207a65 CLINVAR:189124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1725f9a0-35d7-4616-b9c9-c0b4845c5712 CLINVAR:189124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db8174f2-7d53-40cb-9d1b-11dd51282464 CLINVAR:253297 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bcc5c9b-c523-440a-b0df-3f3fd8328dbc CLINVAR:253297 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c3a4d12-22e5-4992-a631-0ddf4712c35a CLINVAR:694309 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bf4b94b-a7d0-4e8e-890a-8fe1e90573fd CLINVAR:694309 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 572e65dd-e0e0-4a2e-bc29-0211e7ca23dd CAID:CA2586970245 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1239c54-a2c8-4b5e-b2b1-0ba9f6f38168 CAID:CA2586970245 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 073ff9c2-e91c-4422-9ed3-c873f487d709 CLINVAR:189869 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4a8c0c2-d6bc-466c-9da8-9ce4b17c4a32 CLINVAR:189869 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8722c65-9fbf-462b-b672-2c3ef24e03ab CLINVAR:373960 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0278743e-f382-425a-a891-3ac519beface CLINVAR:373960 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c949685-dc0b-4d5b-a794-1679a8828821 CLINVAR:68689 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0f1e61b-ad4c-4305-910a-bcc00f99eea1 CLINVAR:68689 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c703e02-df58-472a-a6f5-238bc2f443c2 CLINVAR:206852 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f37eae3-b277-487e-b269-30cd1a783615 CLINVAR:206852 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f2cf9fb-7fa2-4e35-9ef3-4496f40ef8ec CLINVAR:194555 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 813b9c29-8e67-4807-a553-353587234a87 CLINVAR:194555 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb6cb61-d9e9-4ba0-b7c7-065d41549a87 CLINVAR:1478168 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bfa1cb6-b8e4-4e58-a5e7-e368ef8e662a CLINVAR:1478168 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63e0ac67-58ff-4c6f-a4e0-92128a338013 CLINVAR:1342669 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e69eb85-b188-44d4-bba1-75ed5b21ed06 CLINVAR:1342669 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea7f314-3abe-4eaa-9af4-1204b3375997 CAID:CA343777244 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fd2081b-4444-4859-9a0c-ad4a916ff4f1 CAID:CA343777244 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7977c14-4f7d-477c-b71c-8d6e726fb154 CLINVAR:654211 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c7d2ffc-7bec-486c-8503-ff55d5be57b8 CLINVAR:654211 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3e193a6-ea76-4bee-90dc-a7e7c08ab461 CLINVAR:18015 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a8eb5bd-3786-4e4a-815b-d56d6ddf168e CLINVAR:18015 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc8d1ff-769a-40e7-a17a-e2ad25dfc129 CLINVAR:870596 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88cf6c27-887a-47a3-9f4b-bf8c9642641d CLINVAR:870596 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52517ae0-06a0-437f-8d69-a2d33e453cd7 CAID:CA1251327 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54dfc4a7-bdee-4e81-a4c6-df1ee1f789e7 CAID:CA1251327 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9c80ad-fe6b-4767-bc87-236badb28f72 CLINVAR:811513 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b26543f-c8fc-4a4f-bf2a-6f68d1a0c964 CLINVAR:811513 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dabb504-2d91-4004-a016-2a5839b32c25 CLINVAR:699299 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a37ed29-1328-494d-b887-a6eb83927da2 CLINVAR:699299 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc13ad05-a4d2-4869-a90f-948e73264ca6 CAID:CA414447224 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59764b77-bd0f-4dbb-8648-6698b7ab1751 CAID:CA414447224 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50883eba-276c-4670-aea5-ad5abb8099e1 CLINVAR:9211 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46196f04-ce76-4f0a-a752-ce6b2f76db57 CLINVAR:9211 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea76a5a7-e972-46e8-bd0e-c230e73ef8f5 CLINVAR:972784 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec3a0a4a-fce2-44e8-923b-27f191b1f4fa CLINVAR:972784 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d84eceab-ff38-42d9-b311-4679e9152433 CLINVAR:586016 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a19e7c17-aa2c-4e36-bdef-f4c58062f1ff CLINVAR:586016 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ad3b90e-abf8-4bbc-9b41-e51330a09b99 CLINVAR:549554 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71e01acf-a5f3-440e-9a06-6cbdd11eabf9 CLINVAR:549554 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d9d7e95-2afa-4987-b183-276518553e1b CLINVAR:435437 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 288b748c-f006-4ddd-8374-75bc9fe65267 CLINVAR:435437 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de21e1d-1715-40ab-a823-87ba7d9828bc CLINVAR:493321 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4df847c-d318-4e1c-95e5-7c6594b7c371 CLINVAR:493321 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af52f14a-589b-45d1-b292-3d0cf492a2af CLINVAR:520675 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7535d973-0096-4578-8810-be3ab24d8b88 CLINVAR:520675 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eb6453f-acf2-4648-aaa7-cae4f76c788e CLINVAR:488999 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1929452e-a40a-4ea2-92d0-a805a16c4e4f CLINVAR:488999 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b321c40-3007-4b9f-a943-6358cf9af879 CLINVAR:36354 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc80aa52-d126-4579-b77f-feee4f4c7049 CLINVAR:36354 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed80894d-c7f1-4495-9524-8c442166affa CAID:CA409106173 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c01018b3-7cba-4d75-bc8a-dbe2774ed96e CAID:CA409106173 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e55175ff-26f0-48fd-8b4a-8235e2995cbd CLINVAR:2580600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00585e89-a4cf-40f2-adb0-44192c51e09c CLINVAR:2580600 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c4783b4-e5df-4764-a957-1a0c4d0a1016 CAID:CA409106718 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bfc160d-078f-45a5-806d-6dfaa1931bac CAID:CA409106718 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bc67d4c-ceba-4267-8e0a-b143e2b059dd CLINVAR:36355 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66d5d9da-31a2-4000-8ff3-d5506ebab766 CLINVAR:36355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69a4c3cc-157c-4d5a-83a4-f05c4b015f5a CAID:CA409106789 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd2d8f4b-fd26-413c-8bde-874654a76c69 CAID:CA409106789 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf700276-d7c2-41b8-a77a-d6dfaaf214d0 CAID:CA409106859 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d1a2b23-f973-44fb-aef8-a2dcf1aaae10 CAID:CA409106859 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28f82dc3-bf0e-4edc-8d45-081c35fa6712 CLINVAR:397578 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f81c77bb-166c-44a3-b64f-0ab8442b7351 CLINVAR:397578 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e927e42-de5b-4ec3-866b-90108a7591be CAID:CA409106952 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a5f9203-59b9-4cdf-8a4d-e428118569d5 CAID:CA409106952 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5e6c401-23f4-4539-813a-526ee38ea442 CAID:CA409106961 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c35b984-d492-44e5-b5fb-9092edec074c CAID:CA409106961 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82c0ee73-e463-4e44-ad9e-d170f5689b36 CLINVAR:586020 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae935a16-d6e4-48fa-8f14-e9421f8c3d4d CLINVAR:586020 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e015ebdd-e5db-471e-8b5f-329a3a34d5df CLINVAR:1186689 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5be63e3e-1e2d-4e5c-9ba5-0af9fac83d28 CLINVAR:1186689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60370bd6-a568-4e12-80ec-cee2cdc491ab CLINVAR:447520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45082aab-28fa-4296-bf93-702e94d0cacc CLINVAR:447520 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 965832c2-2bef-4bdc-8afc-f2c0ce3ce604 CAID:CA409107446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 266123ee-1f69-41de-9237-83c65719a095 CAID:CA409107446 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e080ed5-6e57-4f29-b1f7-f605a616affa CLINVAR:870344 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 635d165f-c1f8-46c5-a43a-e4e515b46444 CLINVAR:870344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a7c61d7-fc4f-498d-b12c-8f8941647211 CLINVAR:36720 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9e8a875-6541-4b0f-b54a-5061d630558c CLINVAR:36720 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d79df21d-4594-499d-b65d-9aa4cab903f8 CLINVAR:2163677 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba84a3d7-4553-42b2-8191-02ef3afdacff CLINVAR:2163677 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef743230-938c-4378-8dff-cd632cce26a1 CLINVAR:36716 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06c956c9-23fe-4d52-98c3-a6ec80ca426c CLINVAR:36716 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b84196-dca5-4b05-b5f8-469368362459 CLINVAR:857069 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2734174-586b-47fe-ad29-9ee7af4dcc2a CLINVAR:857069 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cbed5ff-bc02-45ac-b598-947031aa2eae CLINVAR:281042 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b169b02-befa-4a11-b8d7-b53fc43e1fe0 CLINVAR:281042 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65b2ceb6-f93d-429b-992d-fa8d2af8d32a CLINVAR:370886 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3cc175b-e9e0-4185-9d2b-a66c055d45b2 CLINVAR:370886 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93d46920-c8ab-416d-b3a4-d5e30d49cc61 CLINVAR:932843 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4b5e088-9812-4dcb-9ef8-6daff074360d CLINVAR:932843 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91a9a778-f6c3-479a-803b-d016d6d54006 CLINVAR:557676 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74c52892-cafc-446e-a360-0451acce82a8 CLINVAR:557676 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc1de73c-5da7-4e4e-98d7-74b7813d4885 CLINVAR:21024 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee095bdd-b9cd-4823-98e3-75927339849c CLINVAR:21024 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a14b7c7-3d78-4e5d-9b93-577eca6e8b16 CLINVAR:197662 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eafbbf14-19f2-42a0-8dd5-1ce772fe299a CLINVAR:197662 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd34a24f-5665-4f46-952f-571ea65a7576 CAID:CA415086302 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7502cc3-6293-4f44-8a30-8c01b7f88ec8 CAID:CA415086302 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec472ad-26f0-4faa-a649-d4dda15c493e CAID:CA4239423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa5c80e0-f580-48a7-a930-d71167537ed9 CAID:CA4239423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cec26bf-b9d7-4271-a752-da833c30c416 CLINVAR:983782 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5c0926b-9af3-4c25-8c75-45dacf60f759 CLINVAR:983782 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258c9974-e689-4c97-9b7a-0dbbbc09bb6d CLINVAR:983781 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69fec163-2fec-4d3d-b412-8ce20d01ae2f CLINVAR:983781 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e952869-63ea-4ce9-b592-1039c8553db4 CLINVAR:636917 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f756344-594a-4f7c-9721-c39911701890 CLINVAR:636917 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6164a8e8-8ce1-47f9-86c7-6563ec4ce97f CLINVAR:1323112 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c0b3bb7-8118-46ab-8870-247f6b6c7bfa CLINVAR:1323112 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 668a894c-a814-4dcd-82dc-404ee81140b0 CLINVAR:418451 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ca27ac0-ca1e-4f62-aa3a-1195504c9893 CLINVAR:418451 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44117faf-a0e0-4681-87c1-26bc6aec80b5 CLINVAR:496900 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cde1a271-345f-4520-be28-2bdaf82b511b CLINVAR:496900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7136d804-dbc7-4df8-9a7c-03cda0b66c03 CLINVAR:450358 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c67088a9-3ce6-4e99-a87c-9ed631dc5b5b CLINVAR:450358 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c3b67ad-148c-4705-81b2-246b927a5b1d CLINVAR:280954 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d5be75c-b955-4da0-a50b-fba41929c3e4 CLINVAR:280954 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25969b14-03ae-426f-8dc2-ffb85daecd92 CLINVAR:928930 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45065a2d-c63d-4807-8167-51f1eb0e261a CLINVAR:928930 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4681cfd4-63c1-473c-8220-ac211f03776e CLINVAR:285197 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa9a37f2-c487-4280-a7d0-c8c523d48314 CLINVAR:285197 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e943460a-3303-4a97-805d-cd26a08c4d46 CLINVAR:4023 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8f8c404-c26d-47d2-b12a-9eaa90136bdf CLINVAR:4023 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db9508d3-51e0-4a35-8a63-d55e53160eef CAID:CA400029324 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a8d4099-bdcb-4e52-a03a-da354387775e CAID:CA400029324 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b1d6dc5-4b53-4a48-a500-dba798501f7a CLINVAR:1803282 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92068170-2012-4f54-8acc-64dbddbdf6d9 CLINVAR:1803282 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14f66646-cbd3-4eb9-abe6-478fe2766ade CAID:CA2759533408 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a55acc94-4f86-411d-9e15-f2e2b07b4530 CAID:CA2759533408 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f611afa-1011-467e-a1f1-aec609b2bd75 CAID:CA2759533407 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 229cb5d3-4517-4555-b834-57617c8cec2a CAID:CA2759533407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4349f8d8-efa5-441f-9aab-e792bcd137fd CAID:CA8603562 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85a9bdd0-a286-43c5-817e-be6f15b3f649 CAID:CA8603562 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ecb0253-a9a0-4438-a887-103a7d86ed27 CAID:CA8623258 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85daadc3-6f99-4d59-ad7f-611a4c80f72f CAID:CA8623258 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee920e41-3b5e-46a8-b19d-32330a2c69fa CAID:CA8622981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78c0b579-c538-4c9d-9d92-81d071c79341 CAID:CA8622981 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b423156-dbf2-4420-80ed-a8f6527bb28f CLINVAR:627098 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7bb459d-cfbf-4d41-a8e2-1bb1eadb0033 CLINVAR:627098 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e395dd2-df6b-45c3-8aeb-432e42f7be33 CAID:CA367401570 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa6bbdfa-8c0a-443a-88d3-75e4c6ba597a CAID:CA367401570 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9463352f-4851-42de-9cc9-2c707de87502 CAID:CA367401572 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 673c084e-e752-43cf-888e-fa1631994917 CAID:CA367401572 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df003fd0-e328-4285-9cb1-109ea0173f26 CAID:CA2740099755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e38bedde-4cfd-4c65-8a98-45a622786a44 CAID:CA2740099755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c316247-692e-4f6c-9685-224ba50523a2 CLINVAR:1700671 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a41d9e8-1104-44dd-bd2f-3a26efb23ed5 CLINVAR:1700671 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ad3f3a-70de-459a-8f86-f7a9be047362 CLINVAR:994548 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ac89719-8daa-4790-bcd1-1001eed39773 CLINVAR:994548 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 860c9737-e376-4783-ac7b-0916668a93c8 CAID:CA386959402 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1ab476b-09ee-4730-a7b4-3f14fe81fe65 CAID:CA386959402 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdca6bda-5940-411c-85b9-72fb3356ef96 CAID:CA386959427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f2ccadd-c191-4dc6-a13b-6f15daf0d844 CAID:CA386959427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03eca56a-ebe4-416e-a87a-90e64375c543 CAID:CA386959458 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69104d03-4012-4117-b363-3201043a2bd4 CAID:CA386959458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d551aa82-1edc-4440-9293-5a8a12cd21df CAID:CA386959470 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b67d5f43-a60a-460b-a714-a383f6e1d2f6 CAID:CA386959470 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8615b610-0b79-4430-9d5b-3a87e287e93b CAID:CA386959497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12fa0b3e-53b2-44ed-9902-5d6393fbb553 CAID:CA386959497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce144f7-c654-46bd-9bd4-043bca909c6a CAID:CA386964629 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98874a96-175d-42fc-b8d7-0e3394bceba7 CAID:CA386964629 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14846485-d9bd-49de-9b53-6fb7d6abd26c CAID:CA386964662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6019504-c3de-4211-8789-49f77ba7438c CAID:CA386964662 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eace7ed3-2d7b-494a-aa6f-46ee99501f66 CLINVAR:2916089 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19a91b81-3059-4096-b5f0-adb5c2199ac5 CLINVAR:2916089 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8670bdc-70ec-47fd-b4a6-5e3ed6c4d325 CAID:CA409109837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76036346-727c-4a60-98cd-51f0caf0e443 CAID:CA409109837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3dc6216-ae92-41e9-b2db-35a5f5dfc5b1 CAID:CA409109839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c2dc632-e3e1-4b98-8441-94c77a7981a2 CAID:CA409109839 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd9a126d-d78a-4c92-8f93-96c4166dfd79 CAID:CA409103677 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd77608a-428c-4d67-87be-a325c61b04ea CAID:CA409103677 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c51aae45-0542-429c-bf7a-106294ece8db CLINVAR:967164 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9656ec6-80be-435e-8e05-82ffd95d1128 CLINVAR:967164 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf6da36-f3ff-41c5-8ecd-4ba4b4433ba0 CLINVAR:841399 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffbfe66f-4f34-4a5e-a9d8-82e17f1ba3fa CLINVAR:841399 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bcdb238-2596-490f-a0c3-a2911427237d CLINVAR:835256 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d9dc3ac-27b9-4d98-a718-d4ac4f51d78a CLINVAR:835256 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a97354-c4c3-4b31-8da1-1d74da59dce4 CLINVAR:2050660 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c37fab8-90ab-4f8e-b292-29f0bb9eacd9 CLINVAR:2050660 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53394b4c-3d14-4d14-815a-e7261db985d7 CLINVAR:573475 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d92a131-04c6-4d57-a9fb-b0d8d2988a19 CLINVAR:573475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c03ae1-3594-4563-ad32-a86f5b4e9bdf CLINVAR:940774 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfb4bf04-0229-4cae-8e62-aa14de9f91c8 CLINVAR:940774 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74fd67a5-2e06-43dd-8663-e493d3726a65 CLINVAR:11703 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19a2da78-e0b0-45ef-a25c-1009c6ccbf2c CLINVAR:11703 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67aa9f0c-6a4c-43bd-8b06-4940dbc25c06 CAID:CA2582129988 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af6ac726-02c5-49a2-8090-8bb63f4de42a CAID:CA2582129988 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 503986a1-ccd9-421d-9f27-7003b805d14d CAID:CA415079038 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 180c44af-5b1b-49df-9192-343881cd67e6 CAID:CA415079038 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8134b35-eef6-4cd0-a8a8-35ed375fbc9c CAID:CA2582115911 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e8876ef-9c1f-484a-a77c-70a51001de25 CAID:CA2582115911 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc457bc-ce18-42d1-b9b5-27a296e2d5bb CAID:CA10549330 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7444de52-0312-4cca-8e58-1c5dfdb2a9e9 CAID:CA10549330 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 485ecd77-086f-4c14-8bbd-5f9fc01a2c98 CAID:CA10549339 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4157a2a5-0542-48fe-9765-05615a5e42e5 CAID:CA10549339 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ed94aa-95d3-4e57-a61b-5b9a788a33b5 CAID:CA10549367 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6a14cd6-fecf-46c1-a007-2752809a0bba CAID:CA10549367 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7bf58ba-bf69-42b1-819a-26e333b4ed4e CAID:CA415080522 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aedc3339-d848-4ad9-a177-28c4f62385d7 CAID:CA415080522 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8047d7da-bc99-49ac-8570-c68fa0afab54 CLINVAR:410218 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40efbd77-9756-4113-ba60-ffd39ae90ca4 CLINVAR:410218 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecdc4aa2-9d7a-4a35-944c-63dc35b087ed CLINVAR:488696 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7202a7f-782e-4497-a826-824581c22abe CLINVAR:488696 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f295e78b-56c9-4f1f-b79f-372bc8f0f04a CLINVAR:1066149 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b19ed5a-bcf7-4e2d-8507-483a596bf9a8 CLINVAR:1066149 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a4f326b-f0f7-42f8-983e-84e081847f09 CLINVAR:1305363 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c823ec6a-7dd6-44c6-b40f-cf0b658a57f0 CLINVAR:1305363 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb93ef2b-d538-4304-8cc6-564861e6ae98 CLINVAR:633275 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b70f6d38-84ed-4c8e-ac39-009a4a985e88 CLINVAR:633275 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc0abdc4-c5bc-47e3-b9d2-5d6036447785 CLINVAR:1677132 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4601c93-c763-412a-b7b3-a57cfb8a6017 CLINVAR:1677132 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49d8bb40-a2ea-4f5d-abf6-4e6284211356 CLINVAR:9363 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4f6ec69-440c-43e2-abc1-4b474a0655e6 CLINVAR:9363 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 159fd16d-084d-4729-bbd2-e98815d9533d CLINVAR:9364 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cb3cdbb-a452-4c88-817b-4c3958a4d4df CLINVAR:9364 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccb7e15f-e78d-41d0-8869-0c3086f7d440 CLINVAR:1708141 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f39a50b-3c8b-4aac-9973-a9d29e839d58 CLINVAR:1708141 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd61989-7d88-400b-b2fa-2387691820ba CLINVAR:968126 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d933511-d1c2-45a0-8c68-925237159d28 CLINVAR:968126 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eb12850-695c-4f3e-9741-457f0970cabc CLINVAR:653423 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80fc10e6-6e75-497f-9ee1-1640605d4a96 CLINVAR:653423 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f7491a3-40ac-4de2-873a-bf968d02436c CLINVAR:646928 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65625f18-ad02-4c3c-ad86-0fd2a795a977 CLINVAR:646928 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6725836e-3e6c-4aba-a2cf-6c1d5befa952 CLINVAR:576525 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbaef40d-d9e2-4527-841d-b74c93c1ef1a CLINVAR:576525 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c5f5cb-7a3a-4523-9132-5606e4872915 CLINVAR:647111 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7c8cbb9-0fef-4b9b-a535-fce1565ba071 CLINVAR:647111 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 250e2e0a-9b38-4110-8a67-8fb3f28c2143 CLINVAR:1022921 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b98dedf-a6d7-42dd-a245-c9008721a34d CLINVAR:1022921 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cecf193-83ae-424f-aa5b-f351deab34cf CLINVAR:299320 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6675dbe1-bc12-4ede-89fb-b04648f08ad8 CLINVAR:299320 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b7e6b35-4900-4b84-b751-68ae66cc96e7 CLINVAR:1042451 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6edebca-d612-4ad2-9b7d-a111bd3fb341 CLINVAR:1042451 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9b9d818-d04e-42ea-93b2-422ed745b534 CLINVAR:288327 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a4168bc-8ae9-428c-909c-2778d6618ca1 CLINVAR:288327 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe33a09-af07-478c-8a2f-34aee9dd44e6 CLINVAR:1965651 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eace6ce9-71ff-42ea-a4ba-5e4074b8cc47 CLINVAR:1965651 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3f2ccea-06dc-43e3-968f-7983cde5fedf CLINVAR:666119 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a136172a-46a6-4e6c-bd2e-d42dfb5b2387 CLINVAR:666119 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07675e02-cc6d-4673-859c-59cda195df24 CLINVAR:879948 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc580b8b-5e47-42dd-8210-c4d03a6f93bb CLINVAR:879948 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e580241-aac8-4700-9736-abfd539a21c5 CLINVAR:1511542 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ca88542-1a82-4a6d-9bfd-bdde989071ba CLINVAR:1511542 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87452c20-4460-4471-8b5d-886dfbfa46e2 CLINVAR:1013704 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1812c33d-d81a-4a28-8711-76b1aac90d06 CLINVAR:1013704 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd921d4e-954d-4f75-9349-81257d8b3bc2 CLINVAR:879949 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1343a616-454e-42b1-ba17-328eab49291a CLINVAR:879949 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a2d352-3c16-40fd-9e4a-b059b6a8038a CLINVAR:1514295 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06c97c09-b280-4b75-a0e7-4b9685df5a21 CLINVAR:1514295 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02cc53f8-d736-47df-8ab0-045c45568ed5 CLINVAR:648065 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17b3a465-a0b8-4f80-af62-59c81e4325ff CLINVAR:648065 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde6afc0-05c7-4b6a-bdc5-efcc21c8189a CLINVAR:1144398 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 722adead-dc0c-46e4-84ce-004f49abaf2b CLINVAR:1144398 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 823520f6-937b-444b-aec2-0229b6331772 CLINVAR:418656 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1240af4-3e1f-4fa1-8e32-bf56b812994a CLINVAR:418656 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbbb0e2f-bbbf-4550-8bfa-c3a257e9cb5a CLINVAR:2138599 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6bc346e0-b063-4495-845a-2ce43d17164e CLINVAR:2138599 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 990d47a5-0d1e-4cf1-8be4-1bd84aedb9eb CLINVAR:1507904 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 013c54bc-1747-4367-9d8e-0c32b133699a CLINVAR:1507904 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f02c1032-e2dc-488f-b08e-f1dce769ba5d CLINVAR:1411137 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53825264-0e44-4407-a286-3f4ea22f39ea CLINVAR:1411137 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87959eab-1089-4076-a89b-01e45492c2f3 CLINVAR:463384 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27d75bcb-86f8-433b-9484-046986a27e82 CLINVAR:463384 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fdc4fea-1495-44ff-ab03-64cf54cbe727 CLINVAR:36388 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be3af0ce-582a-4c01-aee5-a346e0ce662c CLINVAR:36388 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ead1f64-8871-48f7-ac4a-c54fdfac2217 CLINVAR:503682 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 743aa8e6-261c-4f5c-9345-46af32a63887 CLINVAR:503682 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70b1704f-a694-432b-b9e0-4d6379011292 CLINVAR:1172577 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 924a69fc-06fe-46cd-a770-d0863136f634 CLINVAR:1172577 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468f0b0e-c931-4e48-8212-751eb2af0a2b CLINVAR:1066837 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1036a48-6e47-4573-96c2-e365a49999d5 CLINVAR:1066837 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 163b94cb-28e2-405d-9c05-2d497099ebd8 CLINVAR:463378 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24530115-4ef3-4b11-8a97-b900e81973ae CLINVAR:463378 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4579ab9e-b0d5-41c0-81ea-abdb2c183ab8 CLINVAR:624606 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78dd758f-10c9-4f39-b785-930bb77b8230 CLINVAR:624606 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d253579-a5ad-4659-9df7-930ec82b8083 CLINVAR:955439 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdbd8f18-c9f8-4550-b8d0-b49973236921 CLINVAR:955439 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a105008b-9a83-4bcc-92ba-417528523fd2 CLINVAR:449383 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef57b761-c78c-4856-8a8e-e0ee454223e4 CLINVAR:449383 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b5ed09-f409-44cf-97e2-babc3c24216f CLINVAR:353268 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03781ba5-466a-4225-a6e6-5190c3dad679 CLINVAR:353268 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 937dbe3f-1886-4dd3-aefc-cc81ed614bb2 CLINVAR:418257 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9bd08eb-eb7a-44fb-831d-d02c0ccffc49 CLINVAR:418257 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89b952d3-b49f-4a8a-b63e-93b14fb41b1c CLINVAR:1393864 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e034e35-b531-404f-b381-7d8b560de4a6 CLINVAR:1393864 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b88b057b-aa11-4161-92a7-d76a5cdc383c CLINVAR:555727 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be3decd6-1c42-40fe-af5c-e0f6e411fab9 CLINVAR:555727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1439b3f7-20f8-4f8e-b35b-1944064722bf CLINVAR:1901446 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 208751c8-f31a-491c-8ad2-f998f31d5953 CLINVAR:1901446 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eb33cf7-134c-4d75-891e-3f610f5bb41b CLINVAR:444650 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dac122c-8f78-499b-9090-8aadeb32b285 CLINVAR:444650 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73731cd6-b1c8-4f97-a508-2de37bdf47ab CLINVAR:1068066 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77bb141b-f2ff-4d27-8b23-67cae01545ed CLINVAR:1068066 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d42ef220-eec5-4155-9773-2b1a499739bf CAID:CA1139771069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af650fd2-3bdf-4035-ab47-f572975614c0 CAID:CA1139771069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93c2b023-fe13-440d-a2cb-9971b985cfda CAID:CA1139771060 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15868aa5-ffa4-4d1c-af6a-fe38f608dfb3 CAID:CA1139771060 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76f0696d-820d-427c-9b95-42e13820c37c CLINVAR:2820100 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f5ee779-d7fe-4f27-9545-284ab86cf9f3 CLINVAR:2820100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69bce955-2f1f-471c-bf38-d280e7b98c40 CLINVAR:1710503 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2137bc06-e163-4ae2-921b-18b89e658f5e CLINVAR:1710503 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2ec61f6-9991-451b-a53c-e267e6c6d071 CLINVAR:1484777 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2cc68edd-4399-4ec7-86cf-2f48a857ab73 CLINVAR:1484777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2be69f8c-b87c-4e89-ba4c-621ce32ab727 CAID:CA2695237935 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63943109-fc43-4344-866b-1be0c9190a17 CAID:CA2695237935 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5711f2a9-d33e-4b28-8100-9ae609e28c36 CLINVAR:561109 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c2eee47-4d8a-4145-9363-643e7baed131 CLINVAR:561109 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acb770f7-b30f-49ef-87af-30a11b1f6bd3 CAID:CA415086032 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 542a1dd5-4499-43fd-b03a-71b21c18b314 CAID:CA415086032 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4148dd6e-38c4-4e1c-8210-94122274869b CAID:CA2579916736 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c29f5e3c-69d2-4b69-a0e6-c8701f60d2bd CAID:CA2579916736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc548df3-7654-47bd-98fb-680f52cb2cd1 CLINVAR:428806 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b830a6b1-1878-4eb6-9302-b6ec94a3d1cf CLINVAR:428806 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 191a92de-321d-4bd3-8e34-7b0503df2201 CLINVAR:223171 biolink:associated_with_increased_likelihood_of MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc09b6a0-f31e-4424-b62a-fe4f17a59a60 CLINVAR:223171 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b28626ff-7136-460a-badb-662353d2feaf CLINVAR:526679 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdb914ab-1b7c-4ef3-9575-d45f5efbaa37 CLINVAR:526679 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a8384c-db55-408b-b284-0a8aa39824fe CLINVAR:526673 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f4b5a28-7efc-4c5f-9e52-a72ae375f800 CLINVAR:526673 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d1fcf9-0a22-4f36-a4fe-306d6df83a13 CLINVAR:43597 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74e395f5-5cf7-453a-95c8-8b63027d55d3 CLINVAR:43597 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f4f951-3a5c-4914-9cb3-866f5e73177d CLINVAR:560745 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55c8c4b1-bd58-43b7-8663-408f87f608ca CLINVAR:560745 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e3fd9c7-9270-4956-8810-0eec63ab1526 CLINVAR:2225 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 508c15b8-84a7-4e86-bf4c-017caf629ac5 CLINVAR:2225 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb607f5-304d-4b3a-9b8e-767bc739cd96 CLINVAR:440404 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17588390-da59-4de4-8b55-ecfd4c7b1a89 CLINVAR:440404 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f69a33b2-9266-4bde-92f4-aabeb11e74cc CLINVAR:196284 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11e8e842-a0ae-4b98-a19d-adc25b2e57d3 CLINVAR:196284 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a259d66a-1e29-485a-ab46-b4470e40e1fc CLINVAR:428794 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47e4e18a-2f7b-4986-8a13-1bd8f258cbc4 CLINVAR:428794 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 449de3d1-eff4-477a-bda8-bd1297120f44 CLINVAR:2216 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3a3ac40-f930-46f0-8f60-dcec24c81de6 CLINVAR:2216 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3df78e0-7c41-4747-901d-cd123f93aaf3 CLINVAR:182959 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4dd85f4c-a244-45d2-8c17-c2a9e70444db CLINVAR:182959 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1d34c0-a073-4bde-93c3-6afe4fde8020 CLINVAR:411979 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59621f8b-580b-4c51-9ca3-cda090e02668 CLINVAR:411979 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba61b40-a5cb-43e6-b986-763774ceec81 CLINVAR:43601 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0cb759a-76af-48e1-abee-1ad2ae71752a CLINVAR:43601 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e1c14a-6dea-447e-b2c5-271f5cee1db5 CLINVAR:141044 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2b7bbaa-d62a-4b8f-b18f-b828ddf733da CLINVAR:141044 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad41019-cb57-4212-9b51-d5ccda4bf582 CLINVAR:223194 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdef3c6e-0084-43fd-a599-69b4551f2cec CLINVAR:223194 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d82a6ba3-59a5-4cd9-a187-4728b0751372 CLINVAR:411994 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8cdfd0d-5825-4a52-94ee-fd9528a0b804 CLINVAR:411994 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3978d99b-16e2-48cb-bf3c-e051605a952e CLINVAR:411978 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 844d30fb-4954-48c5-9942-61ba30a5c7b9 CLINVAR:411978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a859262a-7987-422f-8dda-a4f0ffc4c471 CLINVAR:182977 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3cb964f-e8b7-49ab-8364-5742d2feeef4 CLINVAR:182977 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b578273-76d9-4fac-97ac-625dd067f3e8 CLINVAR:93326 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b688583-fa88-4a27-9f52-851a5b6cfd9a CLINVAR:93326 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80c0ff90-4c73-47c6-8e91-2822f34b8990 CLINVAR:941841 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db68a617-3436-4cb0-a02a-d896b9332ae8 CLINVAR:941841 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f7cc75a-f13b-45a5-9bdb-586746ba31ad CLINVAR:655729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0f0fcc7-d174-4904-ad3a-4d47f7cc4715 CLINVAR:655729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20dc9fbc-753f-46c4-9bfa-3a12be269496 CLINVAR:378124 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7daa40c2-290e-4256-aaf1-07b72ac66e2a CLINVAR:378124 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61ffd681-69c7-4e85-ba2d-af04e15c0faa CLINVAR:3256144 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6af87f23-3362-4fef-b8b4-a6f148741bc4 CLINVAR:3256144 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01c8cae2-265f-4ae5-a574-4f953eeaef94 CLINVAR:1391239 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52837545-94d9-4c34-b932-3c4ef381d3e3 CLINVAR:1391239 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3cbcb0d-d35b-43da-a0e5-8fb8d8cb5095 CLINVAR:1334161 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87d55383-d232-45bf-8a27-d0d7e7265310 CLINVAR:1334161 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7ccc458-20ba-481e-955b-f5a28a54d25b CLINVAR:438620 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16adc1b3-9de8-428d-b45e-b930459a23b4 CLINVAR:438620 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9026a4d-b032-41cc-b4da-c25b90904f8c CLINVAR:18009 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52d3c2ea-d2c9-459a-a779-609b48a0939b CLINVAR:18009 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 390571ea-78ba-4aab-8b17-e4849a4b6678 CLINVAR:876602 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b203ec44-abc5-4513-b98d-9edf4e1244a8 CLINVAR:876602 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a38d1062-7e86-4ef6-be5a-ce1424d8a1c1 CLINVAR:1301540 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b669252c-e708-4306-b34d-91844032684d CLINVAR:1301540 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb0b75d-ca40-40ae-89d9-de554bd4b6aa CLINVAR:627341 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86c63b63-fc4d-4316-874d-d427775a7a67 CLINVAR:627341 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dbdeae5-cebd-4510-8105-92436cbc1b0f CLINVAR:661606 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72a5df98-24e5-4594-9f7d-8c0c22194976 CLINVAR:661606 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3105396a-c9a7-4864-81b1-9bcd098dbdc7 CLINVAR:18030 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee0c6277-ae74-4baf-804f-49cd74250678 CLINVAR:18030 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f51c460b-1e59-4421-833b-189ecdf2fa18 CLINVAR:2267274 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen baccec5e-f648-4c41-85ab-c043d7365ca8 CLINVAR:2267274 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0ec38ee-db93-48e7-a979-422b8c296892 CLINVAR:940768 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac0c50c7-b8ea-4c0f-81c6-e0390e7f0b7e CLINVAR:940768 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 054aa7c9-8c23-4e3e-b07e-644d4c24860a CLINVAR:293841 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5effece7-b76b-46c9-9c81-54969b069346 CLINVAR:293841 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5ff2502-d862-4d5f-a68e-8c703841f881 CAID:CA367402543 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee456219-d162-4bc9-9a83-fbdb25f61f97 CAID:CA367402543 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f25ab75c-d5e6-4ee5-bc7c-e164d79c2f57 CLINVAR:3358853 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 903d57bf-2bd0-4b34-81e1-380ab2793843 CLINVAR:3358853 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3c429e2-00a5-44ba-ab88-93b63c8b8135 CLINVAR:993916 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a126a8d7-1685-4c8e-ae6a-1fde9003522e CLINVAR:993916 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691ac5fd-db28-4401-a260-adce5656258f CLINVAR:10253 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bbaef78-c78f-488f-bf5c-4036a4908c3c CLINVAR:10253 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d1bd88b-8836-40d8-a64d-d5a191c3ada5 CLINVAR:10236 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99c2a1ec-025e-4fbe-b94c-25a450b4d0bd CLINVAR:10236 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2640e400-c8d8-465f-900f-0f584d4cbf0a CLINVAR:2775446 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20d9fba9-3654-4839-a22a-75cfacf9a0be CLINVAR:2775446 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c40c5d16-0265-4efd-a758-8ed4a14d08e8 CAID:CA414916097 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72aadf2e-4870-474b-be3a-015632b7f6a9 CAID:CA414916097 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4279d13-726e-4b63-8642-0e1ab6560c16 CLINVAR:10208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69889c97-05ea-4f48-a116-2cb6d7e901a6 CLINVAR:10208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec7c4c60-7a59-48c1-8181-0217fe53ea6f CLINVAR:10195 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb61a9f1-42d3-4667-a63d-70335cfb7cd8 CLINVAR:10195 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7788a016-6496-4b9e-b40e-398fefaa5c06 CAID:CA414896830 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fcf8213-e1ab-49e6-9862-e6a20dd7f56d CAID:CA414896830 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a66d360b-d18f-4c2e-a4ba-7c9e709030b9 CLINVAR:10085 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db1aa921-64f0-4a44-97cb-5d601890e715 CLINVAR:10085 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6091ef0a-8507-4e47-ba16-6381babf9230 CAID:CA414447210 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9de9b60e-eb95-4c24-9699-81d0bafb758f CAID:CA414447210 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1bf2f30-b2d9-40a8-9d25-9a79281a5fa4 CAID:CA414447212 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3134237-4b6b-49a4-976f-0fcd082a5eaa CAID:CA414447212 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be31b113-5cda-45d9-b33b-d843265b0efd CAID:CA414447216 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 957f4089-1516-40d6-afe4-99dc10628ff1 CAID:CA414447216 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9748610c-4511-426f-b5b4-6051d3342ea1 CLINVAR:811512 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d22a401-3005-4d1f-b20e-f59fcc3f942b CLINVAR:811512 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b89e33a-74d4-45f9-ac84-60ac4cf98755 CAID:CA414915809 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48d45540-32e9-4ef9-bbc1-8bc444d0637e CAID:CA414915809 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1006fd12-6653-45ef-964c-9891290f78bb CAID:CA414447354 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99d620ae-683e-465e-bd38-216e0e9cf4f9 CAID:CA414447354 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc12b1e-a6e1-4402-b4e8-bf982ee5986e CAID:CA414447351 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfe15588-e66f-4653-972b-65d871db6223 CAID:CA414447351 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff5f6822-2be4-4c25-8116-1972f516a5c8 CAID:CA414446711 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3aea3e0-b7a0-4672-b5ef-0464462a9f77 CAID:CA414446711 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a12c817-69b3-462b-ad55-85685029cda5 CLINVAR:651569 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8d1655b-a9e2-4937-bfdc-7db25bbe7a23 CLINVAR:651569 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b04417-5a6b-423f-8b80-350e8176b124 CAID:CA414445371 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e2dbec1-234e-4b28-a9bb-3977ab012a7b CAID:CA414445371 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618c32cc-408d-45d4-ac61-b085fd0333bf CLINVAR:626950 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95d8727e-90f9-4938-acd5-ace2c91b6e68 CLINVAR:626950 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba27b872-d102-4f4c-9a73-2b8d9f069ea0 CAID:CA414447533 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e23e2455-9b01-4984-8a2d-aae459393931 CAID:CA414447533 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31efb083-f727-4064-9d05-12591119a965 CLINVAR:10587 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b237c4b6-5fbc-4373-98ab-95be36d72967 CLINVAR:10587 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a01165a-5484-449e-ba03-8c0457de3d51 CLINVAR:10585 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61e04043-fb1f-4bdc-92cf-8617133870c3 CLINVAR:10585 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9295e16-883b-498a-9868-d935e6449333 CLINVAR:810867 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab8642c0-4d84-4af0-be5e-1eef1f6c8cd4 CLINVAR:810867 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8594c649-39bc-4eef-a8a3-4b097c9c28a1 CLINVAR:10572 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7aec01d2-6018-470a-85d5-84195b623cac CLINVAR:10572 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 349538a4-fc4a-4f05-b6a7-bcb6af58a59d CLINVAR:216926 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e21139ba-7258-4877-b8ac-a542f6aa06ba CLINVAR:216926 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 916e997b-6bc3-4e74-ae82-0aaaa64e2a75 CLINVAR:10579 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f0e418a-4054-4050-a434-8969eedc158a CLINVAR:10579 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e894170-d194-460f-b221-342a3878cf55 CLINVAR:2775451 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea6da729-4694-478a-8e8f-7de4104c482b CLINVAR:2775451 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5acd4016-adab-44c3-9f27-13c248f9a7bb CLINVAR:2775450 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b5b7e89-1f16-4bb6-abe0-e91a53b340f7 CLINVAR:2775450 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 563f19db-a4fe-4cf0-a8da-059b2bed1259 CLINVAR:627328 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bff7294-0501-423b-922b-462a5786bbe4 CLINVAR:627328 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93b16bfe-d509-4dba-8148-181d3ef1dc86 CLINVAR:10256 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95f8fb1d-7267-42e9-89db-e21940fd247c CLINVAR:10256 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3e1191-a901-4f0e-b1ce-032f85c7d534 CLINVAR:10294 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e082d5a2-6725-44ce-acb1-81c7e71942e2 CLINVAR:10294 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ec9299-7f73-4d82-a701-81aebcff3f4b CLINVAR:10274 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 422f8a7a-7f16-43a7-a104-91ddf4926178 CLINVAR:10274 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24f94fc3-d2d2-4ce5-a0da-c37b7b5d2404 CLINVAR:2775449 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1dda6f49-d513-485a-b534-bcfddf77794e CLINVAR:2775449 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba1f8052-2e92-4b70-9366-bf7f3a56309e CLINVAR:10232 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38d6755d-7bcc-4ae4-ae6f-3d57097dea3c CLINVAR:10232 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8822ff5a-b31a-404a-83dc-aeb5c1c728b2 CLINVAR:10247 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f925ab0-ed87-4eea-97ed-7c91345b2539 CLINVAR:10247 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d88c28f-6bb7-438e-98cb-a84788a29beb CLINVAR:2775448 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40060d05-6c12-4348-83ac-7052992d7432 CLINVAR:2775448 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 307e415d-8110-40e1-81cd-6995a87c81c4 CLINVAR:10139 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 767742dd-1f6e-454d-a9ae-67491590976f CLINVAR:10139 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64106cac-1924-41b7-aa99-1d7940336872 CLINVAR:2775447 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8953cdb1-00fd-4880-9b0c-1277d8355e7a CLINVAR:2775447 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e85e3f76-9089-4f5a-a8bf-63d6fcc8b175 CLINVAR:10304 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a17570f2-1db6-4b0f-8c3c-becbad906fd2 CLINVAR:10304 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10e38ad-5d7b-4014-a0a3-6eb58955ebc0 CLINVAR:10327 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6f4f8f9-55c4-4536-996e-6b032d87da54 CLINVAR:10327 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84bd0934-604e-4d14-b066-09202a2ec847 CLINVAR:2775445 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04e745dd-699b-4a16-98ef-975842ca2e27 CLINVAR:2775445 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd1bac4b-9cac-40cd-a2b5-0ed4bd5694ea CLINVAR:2775444 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61fdbb43-f590-484a-9cfe-b387ce029443 CLINVAR:2775444 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 813db585-39e5-44b4-8805-4dde09cb685e CLINVAR:627165 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8affd56a-18f3-4ad1-b533-4245958c77a3 CLINVAR:627165 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d007a3-a281-478e-9452-5d8267b55bc8 CLINVAR:449370 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3482194-2747-4fbb-b5d0-0e39dca2c627 CLINVAR:449370 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0857073-a9dc-4e55-8afc-b9be32f303cc CLINVAR:618104 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a767c437-c22f-4412-94aa-238f2a680c94 CLINVAR:618104 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4cb4c39-49c3-4b3e-8197-78981f82f148 CLINVAR:10226 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff9dc70b-f6f3-4f00-acf9-40b7e0363a76 CLINVAR:10226 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3610d26-fa58-4a66-b9e0-14a9e38e592a CLINVAR:10225 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c46665b3-7053-4dde-b057-ccf51a8fe23a CLINVAR:10225 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ebdad3-349f-46b4-8e46-14cada9795d8 CLINVAR:2130981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7aea85f-ac43-49f0-b702-8c70395ed6fb CLINVAR:2130981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dac8f23-96e9-4726-8ef0-694426343f9e CLINVAR:580214 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06be45f4-f287-462f-891e-d2ddd7dd16b9 CLINVAR:580214 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b97922-3b61-4ca7-a2a7-96280c618082 CLINVAR:843571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 028a877d-3767-42f7-8e01-956636038c51 CLINVAR:843571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dedee3d-5553-473e-9c2b-3a1f3b63dfbb CLINVAR:1692640 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7dcecab-6733-4056-a83d-1b2fc4e78feb CLINVAR:1692640 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af11b8e7-ce62-4fe8-ad3c-55d519556932 CLINVAR:948047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f012c31-caf5-44df-ad1f-9c4e978ec16c CLINVAR:948047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a234e3-b160-489d-989a-4e03a29cfee2 CLINVAR:1053850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59c10623-3054-4970-8497-2cf4a33a4ea2 CLINVAR:1053850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93ace843-ccd2-43de-adaf-552a2cf7996f CLINVAR:837414 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45da453e-51c4-4937-aa2c-51852d8aaa38 CLINVAR:837414 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 436f5dfb-cb4a-4d8b-89ed-a407bbd608da CLINVAR:1424427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04ec95c0-1038-4f67-8f1c-bc55cb06193b CLINVAR:1424427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 718dc2cf-6a4b-420f-81c6-821fc4b5e02f CLINVAR:2435493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6686917-342a-4cbf-aaf6-d3817dce2a2c CLINVAR:2435493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23de6a5d-d257-4d00-b37b-6902e213808f CLINVAR:1482695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9feaf5dd-3c3d-4852-b5e1-bec3c7981b65 CLINVAR:1482695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e102c728-1dcc-408b-8753-e2f96b2b3711 CLINVAR:1722154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 661fd798-e758-4a9e-8705-3d2552b1077a CLINVAR:1722154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd234d48-d890-4b20-9cf5-8d3eb374a32d CLINVAR:2047695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc6a6fff-922a-4e54-a4ac-72308c2ba8ea CLINVAR:2047695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f0d4639-3221-46e9-bc76-52c93e5a522a CLINVAR:1487660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 917ac075-8d00-4742-b77b-4c9ab06cd4f9 CLINVAR:1487660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54e830c8-3f78-4c44-ab9d-8c748f5f9127 CLINVAR:1722136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56aedd94-b000-41d6-9636-4887634ea85e CLINVAR:1722136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d45139-3679-4538-9a97-97dbb896b2d1 CLINVAR:1692648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e36841d2-999b-43cb-844b-18a3bbe421af CLINVAR:1692648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a0a91f0-81ca-44aa-8e19-b3d2538836bb CLINVAR:1352428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ba36a15-5dde-4f1c-9fdf-7bf84c4e5947 CLINVAR:1352428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 290e5c5f-0965-4ff4-b6fc-1dbbf6ccbc2e CLINVAR:951606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45f79178-1fc2-4d58-bd2d-8a2429bcd2f9 CLINVAR:951606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 516a85c8-74be-4cf8-8794-99187f078e59 CLINVAR:464004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6a13021-e0cd-46c6-9697-f807d1cd616d CLINVAR:464004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9cd7a41-e0ec-418f-9090-31795728b9f1 CLINVAR:1703791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03f24029-f288-40c0-b668-9946209bd0f7 CLINVAR:1703791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aff12612-fe31-4d97-872a-5c4f0d330ec6 CLINVAR:1024050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a12cfdb4-ae02-4cc1-9816-36d2a5206206 CLINVAR:1024050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a222a305-f909-437b-b8d4-eee0402dfc18 CLINVAR:239046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6637196a-3e22-4a78-8191-ae86e60742bd CLINVAR:239046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea2e238-9669-49cf-a500-47ef2b8d9b62 CAID:CA410202636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4df550d-8d57-4233-b9ce-e7ac3d794a2a CAID:CA410202636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca8b7ecb-71ed-4f5a-a708-e3a0aecae794 CLINVAR:436615 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0190eb90-30e7-4817-a868-652d9493479a CLINVAR:436615 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8f71681-c311-4acf-a38f-7ba6ada331d3 CLINVAR:853648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7db6542-83f4-427c-bfad-4e6d7daed694 CLINVAR:853648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c29d39-4e21-4331-8ef9-d48f80bacb04 CLINVAR:856424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63c8cdfe-78af-495b-b7cd-8ff82aa16ee5 CLINVAR:856424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eee1006-1282-41dc-92db-e5e26cff098a CLINVAR:860155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 084b8fc3-b106-4c98-98f2-b20fde8cc32f CLINVAR:860155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b0f8a76-9b24-4692-b704-d10a090c52c7 CLINVAR:1496304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23015cc0-fb8d-471b-95f4-f669a1abc4fd CLINVAR:1496304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcbc6781-9a1a-4f2b-9b04-f1138c99f571 CLINVAR:463983 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fb57fb8-0c68-4067-bead-e40688952362 CLINVAR:463983 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4ad02c-9a4d-4b8e-8cc8-1b8f9b4743ee CLINVAR:1709200 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d010b83-a6b9-4cc0-bdf9-9bfeeebd6819 CLINVAR:1709200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd430b1f-45a7-4209-9eb1-6de8f6c1921f CLINVAR:1016458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1f66f34-3502-4ff4-a8a7-d5af8543c168 CLINVAR:1016458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8638ee52-adb2-4704-a7b7-c62e7b262196 CLINVAR:962678 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a40d1862-9bc3-4b2b-bd67-19e5505a8563 CLINVAR:962678 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a83238eb-8b3e-4ffd-ba87-52d656e15df4 CLINVAR:959847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cac6e4e6-79de-4f21-8769-42ffd133a0fa CLINVAR:959847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61491e2f-275c-449b-ae4f-0d1a5afe599a CLINVAR:956754 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5973a822-1f5a-4b11-bbe6-18752dc22279 CLINVAR:956754 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50eebbe6-3ec6-4709-b6e9-cb19d2bc5f61 CLINVAR:949338 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b553461a-49ff-42a1-bb0b-ed7d963a9e85 CLINVAR:949338 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44c74983-b6bd-45f3-b90a-8b53b5752535 CLINVAR:860286 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cadf4393-cd1f-4f27-a84b-8e89400fd742 CLINVAR:860286 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41bc88df-6991-492b-a1c8-8b8ef4089494 CLINVAR:845897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed2ab055-03d9-42cd-9509-c9699c831214 CLINVAR:845897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52bba7a7-3afa-44cf-9a2c-670f224ff2d2 CLINVAR:655133 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 381ec9aa-f07c-4da1-84d3-34d5adef385c CLINVAR:655133 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4efee8b9-fa4f-46f1-8de9-c3f343f891ef CLINVAR:1401789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e42500d-f796-416f-bf0c-30139279aa52 CLINVAR:1401789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b2771c-5298-40f0-8033-7f5810cec8af CLINVAR:570999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84cd7bd5-c11c-436f-b3d5-f2853478b5e2 CLINVAR:570999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32088b25-ac58-47bf-b691-1480c5cb6df8 CLINVAR:1359458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7c5b320-d3b6-4bfd-b37c-1631e7519307 CLINVAR:1359458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b836a6c-cbe3-4eae-8c33-8cc1c3c145a4 CLINVAR:2087940 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0424d547-68df-4e01-a8c4-2f71ba9b2250 CLINVAR:2087940 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79aa35df-166c-4ef4-b2d5-e1d9a947152f CLINVAR:409825 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11c3daa9-b250-4ea2-8ec3-20bf0ab6bab9 CLINVAR:409825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a79142b9-33d3-4e05-b195-88c6e8a6fac2 CLINVAR:561241 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c33cf58b-7f68-44c5-ac52-81de5ed614fc CLINVAR:561241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bc1efc0-a989-4adc-b733-4d0512940c9e CLINVAR:862114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a913732-badc-43ee-bbcd-a82c12442c3a CLINVAR:862114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36100a48-8529-4e72-a7f4-bf01a249e1e8 CLINVAR:561239 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31e27f1b-cbc8-4331-938b-ed6bac0cc965 CLINVAR:561239 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ccf4f08-d7c8-452b-91c0-ce77009352d6 CLINVAR:1692641 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd67c897-6da3-4536-be37-5d909e6685bd CLINVAR:1692641 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea66f95-2c29-4434-beca-424dc51bcfc5 CLINVAR:1692642 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94cf54cf-e81b-45d3-9310-4478c8acc374 CLINVAR:1692642 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12698bad-a1c2-44a0-83a4-b78f20bb80a8 CLINVAR:1389496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aebf253e-fcd0-4c1b-8e9f-fbd9143f7951 CLINVAR:1389496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8d14d5b-2bb9-43f2-ba32-79960c50f16b CAID:CA410202624 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1139feb3-3f26-4cdd-8847-bc8b442f3787 CAID:CA410202624 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b923fc2a-afaf-4d87-9394-eca89946aeed CLINVAR:1005132 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fbb6f35-47e1-4d27-a42d-9aacb70a91ed CLINVAR:1005132 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d81745-d105-444b-9a53-6c8807834258 CLINVAR:968245 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 834c79b3-3db2-4d2e-9966-f89ccdbc753f CLINVAR:968245 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5977c2f-559f-4ba9-8454-fab4ec703803 CLINVAR:2145852 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db634ec9-4e6e-4676-a8e5-cfd822584d66 CLINVAR:2145852 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa79a511-01cb-4cc7-b594-f85df5c0ece0 CLINVAR:1721206 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78153404-195f-4d00-876c-a8a7efefd0e5 CLINVAR:1721206 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed048aaf-fbd4-4890-85d9-4e739d37eadb CLINVAR:1142515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9f5b04f-fa44-41a3-824c-bad527c2b20d CLINVAR:1142515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee8be4f3-43c0-4dae-87b2-c189db6e9550 CLINVAR:935710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 345225a3-1b00-4ec6-8cb4-901982aa2780 CLINVAR:935710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb9d6f2-e17f-4f4e-8c77-a5da899d6f86 CLINVAR:840868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee8e7ba6-4e31-4eeb-8389-f652d272d906 CLINVAR:840868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c63197a9-3dbb-45a3-b2ef-add19ae750c7 CLINVAR:641150 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bd33607-6f9f-47a1-b193-7cd464d0dd4f CLINVAR:641150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30aea654-6c55-4173-8cdf-593166c2f059 CLINVAR:660172 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1dfef3c-fe7b-40aa-89df-d9a48e068c9d CLINVAR:660172 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b8534b-2932-40d2-a9a0-efd1b14010a2 CAID:CA16020817 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b75d38a1-d050-4179-8ee4-c0c2906720c7 CAID:CA16020817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7302f7bb-89b8-4483-8d1d-d08561a1de0a CLINVAR:2226 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f259ca2-a5ab-4cef-a389-8bcda09678d2 CLINVAR:2226 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b5ebf6d-d1d6-45fd-9b4e-e8fd4e915133 CLINVAR:182978 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d2b144f-9e08-4137-bb71-97ba948f8729 CLINVAR:182978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c01fb35b-e064-4874-907e-0f09f8a6860d CLINVAR:988847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4d50e46-75c5-4c88-8752-c53794eed584 CLINVAR:988847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba25ff3b-b295-4cfb-a21b-559fefb67d26 CLINVAR:1014459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed80222d-1417-4b76-93ec-8f7b3ec07336 CLINVAR:1014459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b17767-afae-4a7b-9a95-4fa14e25a43a CLINVAR:464003 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2c7d6b6-639d-476a-bd44-af8365c8346d CLINVAR:464003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51f2c624-3192-4d4b-9aa4-e3da9ed369a3 CLINVAR:1125165 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e165e5dc-ebf8-417e-add0-710b7853153f CLINVAR:1125165 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24fbb8cd-8cc3-40ba-8c8c-e2c7f09baef3 CLINVAR:1025166 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 749a58c9-200d-488c-904f-1fef4007f6e3 CLINVAR:1025166 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a9a21fb-82d6-4056-86f4-d057098d9684 CLINVAR:239050 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1db11d23-85e8-42a9-99d1-3cdcd1d3bb37 CLINVAR:239050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7e2117-4e26-4354-b52a-9672021c77ae CLINVAR:649370 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4225c85f-e798-42bb-ad50-171798975c5e CLINVAR:649370 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbdf7ff2-aeaf-492f-81da-0d9cc5ef6318 CLINVAR:1009786 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e500f3f-f3f7-4bd8-8ac5-6bbda9e48487 CLINVAR:1009786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 961a8654-54f6-4b9b-b295-cc63c2757472 CLINVAR:1077574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e6f0090-9d74-4f7b-9ca3-1a0b064a687c CLINVAR:1077574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03cdeeb6-62ec-46d8-9f0c-7f2a6bc2af1b CLINVAR:1417068 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d8c1c6e-6d72-4b51-b45b-894b10261876 CLINVAR:1417068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f34a633a-27c3-4c09-a4d7-1d7d57f70df6 CLINVAR:2417866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cbf0819-a688-4483-9b6a-12f8f6c55981 CLINVAR:2417866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cebf2090-0335-497f-b610-ba36e7005ab9 CLINVAR:1524897 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c44bd8c-cf82-4c70-98ec-a646865f7e09 CLINVAR:1524897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d04a794c-42f1-4108-8b29-438e8798e075 CLINVAR:1496240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b27c1ea-423b-400d-83ea-075f015593a5 CLINVAR:1496240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b4826e4-0f8c-43e2-aa8f-5bcb810dd425 CLINVAR:2071711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b5ea175-a6d9-4ab9-af3a-94b4681dcec6 CLINVAR:2071711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59bddf9a-239a-4d76-8600-981100e2ada6 CLINVAR:1321699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35375b15-66f0-4418-9eff-5158d3d4392e CLINVAR:1321699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4a602f7-a097-4687-adf2-769d96597eb2 CLINVAR:1374525 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f05d0bf-b053-46e0-a26b-8b896311461b CLINVAR:1374525 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd314df-aadc-4e3a-8420-15e473a4dd1e CLINVAR:964908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30f6ee00-e174-4642-933f-6b27345f400d CLINVAR:964908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ca3650-863e-4bd3-a427-7e9da3153b20 CLINVAR:1052351 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a660ef00-1719-4da4-a4c2-599a2a208c87 CLINVAR:1052351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af31ab56-f7aa-42fa-ba6e-b9ea8506a327 CLINVAR:1348351 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 249ca0eb-c71a-4125-8202-0e34c3299117 CLINVAR:1348351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31337fc7-9765-4f6f-886a-9fd0fff33543 CLINVAR:1723808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c8b35c4-1c45-4dbb-9715-95009f32f122 CLINVAR:1723808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ad476d-a508-4478-a9ab-deb8e5a9731a CLINVAR:956982 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11c9f8e9-a43b-43b8-a0d2-2be84f179bbe CLINVAR:956982 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89a7b9f0-a878-4a47-8712-a923f3486b64 CLINVAR:2163996 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efc117f9-1f2c-460b-81aa-47c0f022c013 CLINVAR:2163996 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04bb1daf-94a1-4143-ac01-a466b70da029 CLINVAR:837795 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11df79b3-e5ad-4454-86f0-3d661f3e93d0 CLINVAR:837795 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc1c1432-f30a-4dc7-b711-d6447c6987d2 CLINVAR:1396766 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5886baf2-2a4e-4d18-97ac-bbc27ad51a33 CLINVAR:1396766 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc1f4ad-209d-4d06-9b03-4605b094ae71 CLINVAR:532667 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04b2f497-6fca-44e4-894d-8b3451d917f5 CLINVAR:532667 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148fb089-3149-460f-9899-343cc246885c CLINVAR:1010913 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee99ed2f-1691-4a5f-8956-bb9e32f7f72a CLINVAR:1010913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b2e0bef-ad76-4d7f-84a7-6159e6b45ac3 CLINVAR:1022052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 096923bf-a673-457d-a54c-aa7cd1b07132 CLINVAR:1022052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72022509-b996-430c-a715-7b9407b3873b CLINVAR:837567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92dd2911-26d9-407c-a5ba-3ede623ac5c7 CLINVAR:837567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851ee100-5fd4-47a1-ad53-47ff7b8ff6ce CLINVAR:2150091 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a229e4cf-c573-4b85-86d9-769f34e71163 CLINVAR:2150091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76fc1ff1-de8b-4009-9127-3e5476c93ae0 CLINVAR:1951250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3306a4d7-69ac-4069-9072-85f3a4435786 CLINVAR:1951250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20bced29-9b76-4ee8-90d3-54332fa3a07e CLINVAR:1533052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48c2de0d-ce02-4e6d-b5e0-e6df0003ed29 CLINVAR:1533052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b48c6a4-f8f6-471a-975c-baea8b39e64e CLINVAR:2060504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18e749e2-b1d5-4f9e-bf5f-851a0cb84ef0 CLINVAR:2060504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 441f8022-7489-4a6d-90f3-f323ee22d23d CLINVAR:1514344 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3418e69d-1c8f-4751-b307-2cb893d56a6d CLINVAR:1514344 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c20e48f-5b0c-4744-b0d8-47e121aaf683 CLINVAR:2002578 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b393de8-bbf9-4899-a34c-04a23e8c412d CLINVAR:2002578 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038e42e4-98f4-4cf9-a8cf-41cfb84c02cc CLINVAR:960077 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b42b2b2-d7e3-43ae-ac07-0c25c7e8eb6e CLINVAR:960077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cecec219-d679-4f13-bd7e-fc713de7ddea CLINVAR:999481 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4ccd79c-382a-4df1-96ea-b3e91d1ceae8 CLINVAR:999481 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 438a5494-13d5-4e6c-8400-6e2d089692d3 CLINVAR:986424 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e935492-f28c-4a52-9d52-d213ca407947 CLINVAR:986424 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9335f1d6-5442-49f0-9fe4-42bdd2727ad6 CLINVAR:9596 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51c017da-08db-4723-bfdb-f7d04b53646c CLINVAR:9596 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70e75247-2ce3-4e4f-8c01-2baba7fc2590 CLINVAR:689929 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8256bca-8b71-4250-883c-145ad4fb20c7 CLINVAR:689929 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ee30ff0-b375-4c76-afb5-485737a3fed4 CLINVAR:1679204 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10a7b974-88f5-4dc3-91cb-2222717ca8e4 CLINVAR:1679204 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9402fcf7-ab70-4e22-a2a1-bf4b3682b16f CLINVAR:430689 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 452f4681-bd71-4107-9b9a-6b17a92b28a5 CLINVAR:430689 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59667982-9cb7-4add-b787-3d7c426e2469 CLINVAR:636202 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a77f2361-3ec3-4a4c-867a-568428b41f46 CLINVAR:636202 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db840704-4500-43ec-ac87-e0d2426ee9d8 CLINVAR:870345 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f2478b0-fc8a-4405-94db-ac95d46b17f0 CLINVAR:870345 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c68285d-ef1e-4ad5-892d-48692a5fe56c CLINVAR:2678439 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77e9eb9c-a5ef-462d-be67-5b3fe72d7bc1 CLINVAR:2678439 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60774db2-e4e7-4096-a824-38662a051b7f CLINVAR:13115 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af05f5f6-5ba7-4353-a9e8-b5de39827dee CLINVAR:13115 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c1dbb1d-a719-4316-b317-0df4598ed1c8 CAID:CA2580612188 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d339206-3546-48bc-ba80-67e203e8a94c CAID:CA2580612188 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6216be04-f503-4660-b923-e1b6acadcd17 CLINVAR:98868 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a656bbb-33e0-4a67-be30-55d07e0f4ea8 CLINVAR:98868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58286330-f64c-4beb-ace9-c014eb8c8751 CLINVAR:812758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1d11be3-adc0-4114-b301-67f0f433d0c7 CLINVAR:812758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd3b5c8-b3d1-40c2-a0a0-cc049960e11f CLINVAR:874235 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a10a085b-57f2-47fe-9ffc-df2da327bc31 CLINVAR:874235 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45c56d05-e310-49db-9181-75ffaa1f7adc CLINVAR:298022 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d31ec880-72c6-4d08-b60e-8e4b01d8f304 CLINVAR:298022 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 969afaba-183f-453a-89bc-47143c9fff34 CLINVAR:98843 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8579a06a-0ba5-4292-915d-ab8ea886bad9 CLINVAR:98843 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c11af5-e9d6-462e-8c8e-1d9916d562f6 CLINVAR:235698 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d850f48-7824-4d39-b667-5a827094f1e2 CLINVAR:235698 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd4a87b-7156-41eb-b2c4-fed094bd8c30 CLINVAR:39575 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9ca903c-9825-4c7d-a19c-7e7383127c92 CLINVAR:39575 biolink:is_sequence_variant_of HGNC:7499 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8acb11fa-7c54-4d15-a003-2ea0ce00c98b CLINVAR:618222 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 074d0bfd-e12b-4ef5-82bd-c5ac93cb7334 CLINVAR:618222 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d32a94ab-15e6-4e64-b06c-6624a215f995 CLINVAR:9682 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a89f9c0-2516-42cf-8fd7-ab8b45ce56ec CLINVAR:9682 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bdcdb43-c855-4797-bb9a-d5097db74503 CLINVAR:9680 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78cbaf09-ddbe-45ed-b2e8-dbc0f098da97 CLINVAR:9680 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81746e4-0cfc-46ca-ba66-d004139de03b CLINVAR:949591 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3acddb4b-015d-482f-a692-50d29e08f912 CLINVAR:949591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7edd4b1d-2a79-46d3-906a-888e8d5f30e6 CLINVAR:2088789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b56d1caf-dc1c-4e07-8fb7-f3338ee29ecb CLINVAR:2088789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f159831e-1a6e-440b-a4ee-47adff7113fe CLINVAR:2089191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a684fb1c-d509-4ae4-87a3-a16e5f8920ec CLINVAR:2089191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67837000-865d-461e-807b-10493dd965f7 CLINVAR:1024911 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f7a376a-7350-46bf-85a4-5cd5918e5a74 CLINVAR:1024911 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d331c9a4-8464-4f15-ac4d-9c44e2f094d2 CLINVAR:2078130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05caa10e-53e1-4f80-8b47-767876f1c918 CLINVAR:2078130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7701a6fa-7f10-4d61-a1eb-8d5ff0391d8d CLINVAR:2151600 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eeabc078-ad93-460d-98d7-3256b7e58acf CLINVAR:2151600 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2038d242-0b73-449a-8d9d-c13081d39ea4 CLINVAR:2089328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5db66e20-dd46-4088-8710-767ea011184b CLINVAR:2089328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b90fb241-3e19-44c2-8c3e-77898de74788 CLINVAR:1986052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b48ea48-b635-4ed8-be90-b8d6262e4d53 CLINVAR:1986052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da6b91d5-0995-44d9-9f80-8c05601527ed CLINVAR:988809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb1426fa-b63a-4c02-aa94-6a09ddc2c73f CLINVAR:988809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b0f899e-df85-4f30-b4f4-1960b37737ef CLINVAR:2094507 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76fe0a82-b44f-46a7-a12a-f523b09f66b7 CLINVAR:2094507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24b22e79-9b86-43fe-a018-aee30ce0d47c CLINVAR:627100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e7c8eb7-d134-4c7f-92a7-3a93628965fe CLINVAR:627100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10789e53-7977-4a5f-aeca-8d20a46fbbf8 CLINVAR:660565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8812324-301a-4ff6-ba3f-976e6512658e CLINVAR:660565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ef07d78-9c3f-4dcb-882f-db7366b8d137 CLINVAR:1684453 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d84cf2c-f541-4125-9e7a-16fae1afab43 CLINVAR:1684453 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7babb24-fe4b-421c-9b38-200dc508d879 CLINVAR:935114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ff6acc3-ce7a-4a5b-b044-b5ee33c8998d CLINVAR:935114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 513ec821-e842-4bdd-9607-4a2c795712c2 CLINVAR:1466432 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99c6de1f-cf47-4dd7-834a-0b1f4e1c663f CLINVAR:1466432 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66240bf-a683-4f55-a51c-b2102cfeb7cb CLINVAR:971877 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdc2166a-47dc-4e85-be0f-e1de81a08238 CLINVAR:971877 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 068f15d8-1520-4dbf-beec-597ddc216915 CLINVAR:839213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75cdcc77-8c3d-4939-9f5f-8967fc0d5f55 CLINVAR:839213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4374ce-4b87-4629-b3f7-7e1ab50e8f77 CLINVAR:1382220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f779cae7-ead4-4b45-8ffc-873fbf034487 CLINVAR:1382220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38fe6dbc-ec33-4d3a-9b9a-ef31f66eb983 CLINVAR:532669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cd572b6-943f-4d48-8557-a9ab30b4d399 CLINVAR:532669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a0119b2-8054-41e4-8470-042ed723fcb7 CLINVAR:2126194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80ec0e1f-5c13-46ad-8919-ef64613a57ec CLINVAR:2126194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bda86da-c69c-4bb5-93bd-cb3243483838 CLINVAR:532670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea967e2a-cbaf-4e15-bd95-67ad31557fa6 CLINVAR:532670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66c77b8e-260a-410a-baf2-b208e4d0a6a1 CLINVAR:2076125 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be6e55c2-c482-466b-b3eb-c0ad8067f999 CLINVAR:2076125 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29c7d2ed-dfef-419e-9ddb-835b7bdc2508 CLINVAR:838046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a37ba50-933d-415e-a8c7-63f08b7c86db CLINVAR:838046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ca2d756-8e0a-4dee-9969-a36790ea1b69 CLINVAR:1713291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f08070e1-99af-4209-9bc6-12e5ecf601d1 CLINVAR:1713291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a240b78-d046-4508-84a8-66ba465829aa CLINVAR:532652 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5aec968-a061-44bc-8db2-81522ed07608 CLINVAR:532652 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0190f1-6e52-4504-a342-e2a3d489ef54 CLINVAR:1711954 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d90a051a-5608-47da-8a20-0b2ce26600c5 CLINVAR:1711954 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a920e4f0-165a-4465-a7e7-1daa64fd91a7 CLINVAR:2183638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0b07d68-2cdc-41c4-af2f-93ca54e278ca CLINVAR:2183638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62bc599e-898b-4023-ba69-9ae593b1b8b9 CLINVAR:939981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2b12d97-bb8e-4de3-b872-a454f036b1c7 CLINVAR:939981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b97b320d-bbdb-412c-8bb3-a854c17dedca CLINVAR:1716418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbd7214e-aad2-44ce-bc78-03b991299d31 CLINVAR:1716418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a91d576b-0d65-40da-b71c-b416dcedbc9f CLINVAR:953427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 685b6d5f-81f7-4cae-9e0c-765628d77b5a CLINVAR:953427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf8fe41-5014-445c-97f8-fc8d5060fa92 CLINVAR:651472 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab23966d-8a34-42d5-be45-b4afb7783ad4 CLINVAR:651472 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d79aaccd-9331-47c2-9694-7a7126584c1e CLINVAR:1055114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 336937f6-4566-4246-b7b7-1d6963c65a15 CLINVAR:1055114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1c53b1c-29da-4641-bfb9-c6c464be3344 CLINVAR:1951248 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f9e8093-63c4-44fd-b6a6-4bfe46acd408 CLINVAR:1951248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7eaebde-c9c1-446f-a20f-c6e1621ef730 CLINVAR:2089097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a91198b0-2a3b-47c7-af1e-84c15388e6c0 CLINVAR:2089097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2914a276-c6bc-4840-9d9d-2cb5da706054 CLINVAR:436612 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4554af6d-dfea-48a6-86fb-95ae242f340d CLINVAR:436612 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03082a56-da6f-47d4-88da-a5494095ef88 CLINVAR:1521966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96041c4e-aa19-46d2-8111-f25342df104d CLINVAR:1521966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a04d930b-9e10-41a9-8c93-b37641a13e1d CLINVAR:663526 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8537c50-9075-4288-bdec-274c623c75bc CLINVAR:663526 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c24f0790-9ce5-4121-9361-2de4c925d416 CLINVAR:665375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ad81e53-cc17-4dfb-a490-51b903e3879e CLINVAR:665375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e26d23d2-e13c-4d42-8b46-55de0f7785a4 CLINVAR:1475629 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cafbe45-d950-4adc-838c-0549df62bb21 CLINVAR:1475629 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86f5aa9a-836b-474e-bd1b-884b2b08005e CLINVAR:30003 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f165709-35ad-4e0b-bff2-d9bd46c58f82 CLINVAR:30003 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac9d3b5b-e6f4-4b22-83de-be9e41600550 CLINVAR:36365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23f7a71f-61fc-4b7a-a95a-9ecd2ea12c93 CLINVAR:36365 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a78c3b-a904-4cc7-b2a3-7654b42c9ac0 CLINVAR:827573 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3891abf-1b1e-41b6-b5b8-4de8552013d6 CLINVAR:827573 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b86581e8-de47-42f7-b1be-c826e14ecce6 CLINVAR:8757 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3016aadb-c3af-43aa-8270-beda5f12a4d7 CLINVAR:8757 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b5cf1e4-16dc-4a9f-a9e3-bf8f2571a000 CLINVAR:1517590 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ea15f89-92c8-405b-a807-7466a94830fa CLINVAR:1517590 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8af457a7-20a9-4c3e-9940-e3178362d792 CLINVAR:827574 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 156df7cd-4697-4f34-bb84-ed0592e70a98 CLINVAR:827574 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49377204-3f96-4fc0-ac00-ef8573bcbada CLINVAR:869415 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e92d492d-a682-472e-8967-eda7e283258d CLINVAR:869415 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c097503a-da07-48e5-9138-e5e25901e889 CLINVAR:852208 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca0740b9-4c92-4376-9a43-a26b43e103ee CLINVAR:852208 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf60fa2-7caa-47d6-9614-3a68615f9c25 CLINVAR:644342 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c42f54fe-1590-47f9-b8bb-983bcb26266e CLINVAR:644342 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef43cff2-b522-4292-bb77-f9cc57a53fe0 CLINVAR:827572 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff407054-04de-463d-a474-de1f1ec8220f CLINVAR:827572 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfbf1a85-3405-4ea0-9101-d8148626514c CLINVAR:656631 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10be3ddb-b09a-4b46-9c0e-778f148e2c48 CLINVAR:656631 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ba9a68-7248-449a-94d4-4de99e57fd25 CLINVAR:1610976 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed1ae9ff-7aae-4094-a504-85bb02b00df6 CLINVAR:1610976 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 677d03aa-5da1-4c46-9884-cd8eafa2e25a CLINVAR:392379 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bed595ea-4bbe-4895-a857-3ad7c9179843 CLINVAR:392379 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa86012c-c382-4a0f-a469-2ae1883e0a9b CLINVAR:422945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 978d9a99-9c16-42dc-9c8a-fe5e285a753a CLINVAR:422945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4055c9b-f49e-4c41-9528-535c2eb40093 CLINVAR:858136 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a44707ff-fe9b-4cb9-951f-089578386667 CLINVAR:858136 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91fda85-e5db-4190-a5bb-1321122f4dec CLINVAR:423100 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fca72a13-7717-4511-836a-2389d73f4e52 CLINVAR:423100 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff3289fe-cef4-4745-b5be-57f64bbc2c3d CLINVAR:536427 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d954e7b5-b836-48ab-bf6b-587f142bfec3 CLINVAR:536427 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6901432-fbf0-4b4d-a5b3-b9ab595c6420 CLINVAR:1199408 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fccfb25-7593-4bf2-bd60-f0d5827440ff CLINVAR:1199408 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2786623b-9f6d-4ac5-a8c6-0329a4cdbb08 CLINVAR:418218 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df74a07f-da51-4f00-9af1-3afff5ba5c65 CLINVAR:418218 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4bce4dc-e40a-42c2-9ffc-391eb777326a CLINVAR:2108802 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6b12d5a-163f-436c-9ce7-ce0a3d022c48 CLINVAR:2108802 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be3002f-d6ac-48a1-937f-d2c92b5b6f24 CLINVAR:660886 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a626a5c3-7f11-4186-a9af-22a3077fb759 CLINVAR:660886 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c5cf1ed-c53c-4c8f-932a-87bc4d350604 CLINVAR:665887 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8153b760-bd8e-46e2-8bcc-2d03359a5d65 CLINVAR:665887 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c2f6b4a-bd11-4e0b-8c79-19a69827797c CLINVAR:827578 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6979fb0c-1662-410a-bd30-7d044b8b81af CLINVAR:827578 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a12839-5782-40e5-8628-632c6c40bd7b CLINVAR:626107 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bc32be2-4bee-405e-bf88-4c70be60c454 CLINVAR:626107 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5af198b-1a4e-4dfb-93cc-2fe2d4271026 CLINVAR:1048525 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32088ba2-5f4f-40b7-92b4-172b046534df CLINVAR:1048525 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec394995-4687-4480-bb5b-721e249466e1 CAID:CA398323709 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d6f7bb6-976b-4817-8ece-bb5b6e176517 CAID:CA398323709 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d7d77f6-f1d2-4334-98f5-0b596ed62b81 CAID:CA2497028945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b068060-f28b-4f60-a954-0aebb87dea6a CAID:CA2497028945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cdda364-3656-4213-8f5d-9380e7d809e4 CLINVAR:2726823 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 174104e6-bb18-470d-ace6-eba2310af270 CLINVAR:2726823 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e293f0-0033-4e34-905b-6c6ee6cee61f CAID:CA2573320470 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2010c7ed-800a-42a5-b8ea-7ad116d38dc6 CAID:CA2573320470 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd5455e6-0f8a-4e8a-857a-8f3b1430a110 CAID:CA2740089966 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 078b5f2e-9159-4871-8e63-f06041ee6e85 CAID:CA2740089966 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f5f926-4235-4a66-967a-ef1e550ec90a CLINVAR:1456275 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f0ba9f4-6790-4133-9a28-c0bd1c26efef CLINVAR:1456275 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b39d26-7cf7-4c69-84cf-1a7144d7edf8 CLINVAR:412056 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c07aea92-b67f-4f33-b16b-4704c27c84cb CLINVAR:412056 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d403d776-0bb5-4096-ab0d-42ec218fc320 CLINVAR:1723516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4781f74b-054b-45d9-ae57-c942463c220e CLINVAR:1723516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3675635-a4de-4a9d-9fde-2c956fe76e7a CLINVAR:143774 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0823f113-c9a3-42b7-9d6c-d4289e92f003 CLINVAR:143774 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b962435-3815-42a2-9ef1-ba97851311ba CLINVAR:162370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a6c66ac-eab8-41bc-ac9b-1c8e0117b7db CLINVAR:162370 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07cb8f60-b0c1-4994-9423-66daf67651a9 CLINVAR:9609 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9aa7ab92-c810-4b4f-b896-fb4fd10532bb CLINVAR:9609 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05cb1f9c-b5ba-4b2b-9008-f43708f9c636 CLINVAR:2018786 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e10dc59-50e5-46ce-a298-ccd7c95765bb CLINVAR:2018786 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c022789a-fb04-4e7b-8dad-2e6f2f68fafe CAID:CA386965264 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc213673-afd1-4d3d-a6c0-2acfdb643505 CAID:CA386965264 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 084645fa-2434-4e56-b77d-da0e4f6965fe CLINVAR:36801 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb48a0ac-6296-44e1-a6bd-3f76c50c6e85 CLINVAR:36801 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd2c9e47-ed2d-4996-aaaa-35e6386f1aa1 CLINVAR:562466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db7a5ec9-8b8b-4138-9161-0c619bd59457 CLINVAR:562466 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3be64f5-cf5a-40c6-a5c6-84a84dc69d8f CAID:CA386972269 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cec802d-b7dd-4ae0-83e1-653ffe406f74 CAID:CA386972269 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ae361e-e876-410d-8d3d-2ffe30ceb409 CAID:CA386973449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59dda3da-b411-4116-88b5-7fef14245859 CAID:CA386973449 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a84c42-c82c-4fa2-9460-a8e85db3e654 CAID:CA386973446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22eea918-1660-4ee6-9461-e42e13fdb9aa CAID:CA386973446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b18de47-55d9-44f5-ad62-e5b2ee9fc8de CAID:CA386972734 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cddfbbe0-aaf9-45ab-851a-d490713e24b5 CAID:CA386972734 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85fcb9b3-9ffe-4c00-b3bc-680ac638e9ca CLINVAR:14932 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a177d6bc-ed23-4d44-a110-b9da4ae0bbc1 CLINVAR:14932 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8192363-ffb9-4462-8441-bc998d288fa7 CAID:CA2573051047 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df70edbe-b7af-4791-8e59-e53d787866d6 CAID:CA2573051047 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61578ac1-0d13-4e2a-bc50-615a4fcdf227 CAID:CA367402230 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91c68dae-be92-4735-baf6-c275190d8f93 CAID:CA367402230 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6af2b9ae-a661-4d30-a86c-0fba66460963 CLINVAR:1438546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18fa8173-a6e1-49be-8ad0-0d168bee1973 CLINVAR:1438546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d91d61ec-37ef-4cc1-a094-59ff7738139c CLINVAR:1338044 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c4a4ba5-4361-49e0-883a-69723a6ccc58 CLINVAR:1338044 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bedcf241-bee1-43a3-9256-55f0f6d79f81 CLINVAR:409824 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4855a076-5975-4be7-8725-7cf893e2ccab CLINVAR:409824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b2d215-2043-4957-8bcc-7e544b529f92 CLINVAR:934175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a515587e-32a2-4afc-86e2-d565e0f5b47e CLINVAR:934175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea566e0a-4144-4e98-8390-2cf4197474cb CLINVAR:1323540 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 693c7ba2-5d7c-43a3-bb5f-20a50a5b63b3 CLINVAR:1323540 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58fe74aa-3fc6-45db-8b97-e60ad9f0650d CLINVAR:1338557 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d86b0c3-4a76-410f-ac19-357c6450ef6e CLINVAR:1338557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 127a3c22-d234-4f87-bcdb-c921c07874de CLINVAR:640778 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d93a1e9-ff1a-4080-a6f6-78b719c3e54f CLINVAR:640778 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d94c9788-7ce4-47c7-b398-c1921b739cfa CLINVAR:409819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9539012-5ca2-447a-b292-0638530a54b6 CLINVAR:409819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6753b33b-40cc-4143-b170-13a72d0b911b CLINVAR:1052786 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45271b8b-444f-475e-afc0-2b5543297402 CLINVAR:1052786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 380026a5-1c8f-43c6-b70b-c472c55e4b09 CLINVAR:858848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad7b52f0-a321-4e04-8cf0-d35af4789589 CLINVAR:858848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5da15251-d091-4b50-ace5-ff3b77635297 CLINVAR:2002610 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a612cbe9-f958-4cce-b8a4-ee3dcf1d641d CLINVAR:2002610 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b8e20e8-62a5-448f-b67a-49090b9e3f97 CLINVAR:2126320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6689d1c4-82a0-40df-a726-6ec5e95c4cd2 CLINVAR:2126320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cf4e119-29bf-4ad4-92a7-325f2cbb312c CLINVAR:1718102 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9da255da-b92d-4c94-95d3-31b387ba1f8c CLINVAR:1718102 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43dbe61-53ff-4c4d-9f94-a229daa161d5 CLINVAR:960066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05772d26-0436-409f-8052-dc35d5036fb6 CLINVAR:960066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7666f3eb-69c2-4f57-a198-37b19da80347 CLINVAR:2062797 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d726c54-a660-4668-9ea3-ad6c8645f232 CLINVAR:2062797 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6153e0-5340-4648-881b-9c77a3f17953 CLINVAR:1003215 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19190bed-18ea-45d6-895e-ca437f79a3ed CLINVAR:1003215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27f5a3c9-77d1-4fd6-88bd-1b2fb6de391c CLINVAR:2116304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d551af8-adc8-4cd0-bc0f-7f6ed1c45dd3 CLINVAR:2116304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cd1ce31-1d3b-40ba-b3e5-18a1fc6acd67 CLINVAR:1972477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54f95860-d184-4300-bbe0-d396fc3d01b4 CLINVAR:1972477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f6b0366-ec0d-4a29-a215-0ccb21eca8e2 CLINVAR:1471430 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc38c935-d66c-4998-84f5-3c58a0ee477c CLINVAR:1471430 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 586c9994-6d34-4b2a-81d6-bc0d5c7e8ab7 CLINVAR:1067421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 347dbc28-b20a-400c-a026-2cac7565ff01 CLINVAR:1067421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 241e9b84-84b1-4269-a6b6-6945199f0152 CLINVAR:409806 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 134161d3-f07e-45d3-a453-7dd18cef4ce7 CLINVAR:409806 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25bc849e-cb76-4738-a3f3-c6ad0b1133df CLINVAR:1999266 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca311b4b-5fb0-4550-8fe2-e4d225d4571d CLINVAR:1999266 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c88a8e4d-0902-475d-9930-02c5f759e859 CLINVAR:1040855 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7346d192-3211-44d5-a44f-af0d497b684b CLINVAR:1040855 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cd1d012-5340-4e2a-89cb-be9b426c6be5 CLINVAR:649413 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5e0d410-552c-44cb-9316-c3f0edee2a29 CLINVAR:649413 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f4c2d9-2091-47ff-a7b1-5cae3b38f4d7 CLINVAR:2011243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d1a5fe6-df0b-4e3b-8e8e-89c26faa2f88 CLINVAR:2011243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15a281a-60bb-4dea-9930-d3f017b3b4a5 CLINVAR:1937674 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33c8e2a5-dbf3-444d-b042-f677fab3858e CLINVAR:1937674 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c4a8c01-5487-44b8-8b06-414371e2ec40 CLINVAR:2008544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40ef2771-c256-45c7-90c6-dc06be784dd7 CLINVAR:2008544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e955e44-0866-4f3e-b3a4-2d7cc781ab84 CLINVAR:579883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84d2ff07-f980-4134-b040-5a5ee942b0da CLINVAR:579883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 844ac553-ff46-4c81-b246-5e92c1603976 CLINVAR:2029145 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b2393cf-49a4-4dca-951f-e3b5e2462b91 CLINVAR:2029145 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e35ec15-a549-4248-a8ca-cbaf8b488b33 CLINVAR:2029256 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b140997f-5279-401d-a28a-8733d984d06e CLINVAR:2029256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f107d22c-c19e-4b40-914b-254a3cbaca92 CAID:CA410202496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6679d15c-4f50-4206-bd91-a998e72c061f CAID:CA410202496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92cfa4a-243e-4980-8163-32a73dfdcb52 CLINVAR:854130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fe023ef-a97a-4e01-bee2-f2e84c573166 CLINVAR:854130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe7094c-320c-46b1-b2e2-54e6e2970104 CLINVAR:1381966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce6347b6-8c3b-4c33-b27e-ae11fdb54794 CLINVAR:1381966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c66470-c7d1-413e-a070-f7a63684933c CLINVAR:532653 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b29d0aa-144d-4201-9fa1-4cea842ba894 CLINVAR:532653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a550afa6-7200-414d-a19e-52c82245149b CLINVAR:1130279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 938c2f7a-936f-408d-b6d6-156f15a5bcbd CLINVAR:1130279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c5beba7-c38c-496d-a9d1-f6e8e33a1cad CLINVAR:464007 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 084ef9e9-3377-4d72-b1e5-48787d8ec35a CLINVAR:464007 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c2fb6f-e0f2-42db-957d-805b8186ac72 CLINVAR:581130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98b956f7-5ee3-4a8b-a3bc-3a4793fb48b8 CLINVAR:581130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34db09fb-0388-418c-8076-98b571616e0c CLINVAR:661459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54012f0c-2b71-4d5c-a37e-47bdcfd6b7e9 CLINVAR:661459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3587f642-4e01-4557-9e44-754b608f1109 CLINVAR:262915 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c428a1d-37c3-4019-8ae2-6aa94543f0c5 CLINVAR:262915 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 607f5e94-cf55-4a6a-a379-659dc87aeb59 CLINVAR:424599 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c0b1498-862c-4ce1-9ff8-0c3a096ca7a5 CLINVAR:424599 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96286912-bf91-4606-93c0-5630d9cfc88d CLINVAR:987830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02b6a256-b121-46d9-b807-02d757776dff CLINVAR:987830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d38c763-8c8d-48ef-b9b5-7c552c6b0758 CAID:CA414914390 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb7184ef-4968-4552-a5fb-5e5065c1a79e CAID:CA414914390 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 567d1d26-544f-4491-b7b0-cd6e45a2e1e7 CLINVAR:10606 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3089a03d-985f-42f0-93e7-043ee799895b CLINVAR:10606 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb6c5219-7bca-41e9-aceb-a061a2d5f780 CLINVAR:376647 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 955ab243-4586-49ae-9033-c4b5a860d6b0 CLINVAR:376647 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ce35f23-3a9e-4d27-a4e9-5a39ddaeb312 CLINVAR:9558 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4f7ae75-0828-4ed9-a605-24b70aadb0db CLINVAR:9558 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df6edd5e-57e2-4a22-9ca3-3ca3de0ec3da CLINVAR:30002 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1584c723-6e56-40b9-9527-828f132b3dfe CLINVAR:30002 biolink:is_sequence_variant_of HGNC:7477 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1603c82a-15b7-42bd-8f10-eddaedffb862 CLINVAR:9598 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8be929b-eb4e-41e3-8ed9-797bca420c9d CLINVAR:9598 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a667fce-5396-44ca-abea-ab9838473fa5 CLINVAR:870573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 329a3e20-ab5d-45b7-a82c-c71142a4a296 CLINVAR:870573 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d105ee-6727-4268-b94d-a6f0954204ee CLINVAR:9575 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ba991bf-c868-4754-885c-87cab46716ff CLINVAR:9575 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26a43a52-2eee-47fb-aeea-35455c303aa3 CLINVAR:690090 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0df749fc-3b1d-473c-859b-d2d33026c449 CLINVAR:690090 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91208bdc-607d-4c52-b51b-b6721af8cb7b CLINVAR:9611 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6b17985-d0a0-4c33-b1a7-7b82e44d2699 CLINVAR:9611 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5345766e-4467-46f1-a969-cc0cde93112b CLINVAR:289 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f095e931-1461-4fdb-9f8c-29727cade912 CLINVAR:289 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4126e0a2-235f-42db-aebb-5b128316d5e9 CLINVAR:309 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e084906f-2268-49c1-98cd-dfb5957b3613 CLINVAR:309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc170976-95ca-40db-ab58-55fcfec7ec07 CLINVAR:31009 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7567f186-21c8-4bbd-8783-a235741332c1 CLINVAR:31009 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29ebaa4-3708-4119-b72e-c2b455aaea57 CLINVAR:100503 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44db0440-46d7-4d48-90d2-cecd53307a6a CLINVAR:100503 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bb520d4-c395-4f62-82d2-f7d110ea5017 CLINVAR:302 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74a0a7b4-b92f-40c4-9809-4fa86450f885 CLINVAR:302 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85620fe7-af4f-4368-a99a-e4b4227d69e6 CLINVAR:295 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afab3a13-b414-4e1a-9f44-3dac12697b54 CLINVAR:295 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a490f8c2-d465-4a7f-b2fd-0efb2f591e42 CLINVAR:296 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba372d54-d410-49de-961e-39078bacc418 CLINVAR:296 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f657c92e-ef07-4c94-81bb-b79c2413d773 CLINVAR:100220 biolink:genetically_associated_with MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80d0312b-dc6f-4d16-ab34-1a2d87777a83 CLINVAR:100220 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9107a36a-ec62-482f-8b61-30f7378adce7 CLINVAR:209173 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9c28788-fa62-4f8d-a1a9-d66d1aca495a CLINVAR:209173 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53ff17d1-4f15-4eff-a5b6-d3aae67b09a4 CLINVAR:1703401 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d73d508-d0de-4e9e-abb6-3c292f405b56 CLINVAR:1703401 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 542799f7-4073-4249-8c02-b04b0eb74e94 CLINVAR:288 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1286df6a-b096-403f-8dbc-7db38b8b1338 CLINVAR:288 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a69fa3ec-ab32-4998-8ed8-209bde8566f4 CLINVAR:9690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20026585-39a2-4cfd-aeee-13dace37822c CLINVAR:9690 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b2036c-9ce1-474d-a602-01a666698f20 CLINVAR:290 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9df67370-aa7b-403b-b7ed-9bda8e30a2aa CLINVAR:290 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58bfa8e4-0ec4-4083-991b-c009072d346b CLINVAR:374080 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 169f20bb-092c-494c-a3b7-855cbb079ca3 CLINVAR:374080 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a62393a-d093-40ea-92a6-d58cae1bd3b6 CLINVAR:285 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6bf01d9-270d-4a35-98e6-8e6c0bfac3a4 CLINVAR:285 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64bec250-be98-45f4-b77c-95dde3379d38 CLINVAR:100306 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 051355ef-0b10-4de6-85bb-3fc80fe6ef30 CLINVAR:100306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9a0e10a-daaa-4e73-bfc2-f8669fd2f667 CLINVAR:100311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0608cec-4d48-499c-99d0-440518340400 CLINVAR:100311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2516ad84-df73-441f-9bce-575d9f17adc6 CLINVAR:1003438 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83701599-0af7-4883-8674-7b87ad8e5a0a CLINVAR:1003438 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e42aef-26d2-4041-b538-ccafe76e93e3 CLINVAR:1004688 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2ccc154-6cb0-49a3-a039-2c78a31eef7e CLINVAR:1004688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7b024f6-1949-4a03-b62c-c5397da84917 CLINVAR:1046092 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7edf5242-c05d-4d62-a574-b83014ff7fb0 CLINVAR:1046092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 303e368d-fad1-46c1-9983-bfe9d9bef97c CLINVAR:1036141 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e94eecd2-803b-41b6-b81e-d5428cf6aa56 CLINVAR:1036141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf2f191-c7b9-4ff8-a8cf-96d5f38c728f CLINVAR:837191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a08754c0-444c-4f4e-9d25-483d77668762 CLINVAR:837191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f426d7-67f1-4e39-8c18-d37f8439dc7a CLINVAR:409805 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b9b42d5-8f38-435a-8004-9c867c24e70c CLINVAR:409805 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36007967-c654-4047-bef7-026682bf898a CLINVAR:1338109 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e7bc86d-372d-43f5-9a5f-7461da44a9b6 CLINVAR:1338109 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 067184d1-3cc8-4b4b-a4d0-744d533e90ca CLINVAR:934637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64e9189b-c73a-4746-9b15-3d314f95c91a CLINVAR:934637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a137f1c-ed81-4e24-8189-da80b0796300 CLINVAR:339848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71409197-cd72-4efa-86b0-c3d8619f39c6 CLINVAR:339848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57f422cd-75f7-4031-928a-8c1da90f52f8 CLINVAR:943347 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 263ee1be-8e21-4549-83b4-5b986a3a128f CLINVAR:943347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea42d3d-2667-47b0-851c-01d1ab827d8a CLINVAR:2067048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b54ba2b-742d-4aa2-80e2-5580c68c51fd CLINVAR:2067048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a25fc6b-7dfc-4c5e-ad52-25f810d7b6b4 CLINVAR:938322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3aea106-7d2c-41b5-887f-db9664e209eb CLINVAR:938322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b4e6e1-d1c7-48cd-8ad1-337a69722553 CAID:CA410147693 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2cf98bb-2cc0-4ee0-8993-d06c8be5d55a CAID:CA410147693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c80e7580-2e76-403e-883f-d7df2b82ae25 CLINVAR:1035236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8d747cc-ed89-48dd-abb4-23dec7131830 CLINVAR:1035236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3844380d-44a8-4a6a-9faa-e9a67a3e68e8 CLINVAR:1035156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5d461f5-e149-4bc4-84f7-c7abdf3a974a CLINVAR:1035156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f526d9-e3da-43b0-b670-ce0a6c1c8c80 CLINVAR:1023243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c5e4739-c9f7-4026-9270-d0517ee443bd CLINVAR:1023243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0fa83bb-0384-4f29-9dda-2c4bf48e92e0 CLINVAR:1014442 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b314402e-4bea-4d6c-a248-5045f5706043 CLINVAR:1014442 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1217da85-ef97-4f64-acb2-336ce97ece88 CLINVAR:1055398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 925b1d7e-4052-48ae-9533-3188294000ff CLINVAR:1055398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de5efa8-9251-4588-a66b-d7eb396834ac CLINVAR:1009232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b43bd3b-f3b5-43bb-89f6-8d8539d6b5c2 CLINVAR:1009232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8607bfa0-eda2-4a93-8d75-87a1094b20f7 CLINVAR:579777 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a858964f-7410-4e02-8906-941b1468aa97 CLINVAR:579777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9ca626-ac3e-4146-afd7-1ba6e9121ad0 CLINVAR:517187 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 019d92db-4de2-4940-9a1e-48dce22bc26b CLINVAR:517187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74a38e5b-433a-4ef6-92df-0cb5b992f5f6 CLINVAR:568926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e0ed1df-5d58-44b0-868f-350f2f9378a7 CLINVAR:568926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 670048dc-7ef9-436b-8131-9354d5cdfada CLINVAR:642864 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be5cd63f-8420-44c1-bc1a-02ba12844ed5 CLINVAR:642864 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c349581d-10c5-40ea-8813-c8ba0c6f8ad7 CLINVAR:1337164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d3870ea-1dfc-4099-bd96-37ee93f37bbf CLINVAR:1337164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69cabc86-0e28-4471-81ad-592dc436cedf CAID:CA410147963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb29a138-ed1a-41a5-b3aa-1f44f93b4504 CAID:CA410147963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5dca91-f5d8-46f9-80a9-275faae488cd CLINVAR:566052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06443ba1-7d57-4860-93e1-0e68df979011 CLINVAR:566052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e0ce52-3e7a-4f48-b192-a481fd7e51ea CLINVAR:532658 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb00af23-1d2a-4ede-92a2-54a24c8923cc CLINVAR:532658 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fbfffb4-b2f6-47b7-9ec6-6fb069fcec87 CLINVAR:409814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f2d9bbb-7b26-4a65-89c8-5478d373b0b9 CLINVAR:409814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 292bfc6f-b874-4d5b-8f07-45d6338684f0 CLINVAR:1450492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb6564c2-fde0-439b-b944-0ac2fbdb5763 CLINVAR:1450492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf96547-9d17-4d41-8365-2ca93f5b0b14 CLINVAR:561232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35db5a21-22f9-487f-acd1-016057cb8886 CLINVAR:561232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a749a6-4da3-462a-8106-ae0c5a2b74b4 CLINVAR:561247 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f2c403c-b0c1-4234-8d43-907ce65f2ce0 CLINVAR:561247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c54b71fd-354b-4da9-bba5-7258e304b84e CLINVAR:619750 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6136f7fc-bef9-4a2b-bb88-9b0b665ac610 CLINVAR:619750 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f6b161f-a4ec-4d15-beb8-a532ab288572 CLINVAR:291 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be648e02-ed66-4a80-ae73-1f6baba9b96b CLINVAR:291 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf16b78-d44d-4cc5-9d48-bebbaee8e0b0 CAID:CA383503778 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10d1be18-6886-49fe-8592-c43c4c098b01 CAID:CA383503778 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618b21cc-4bc9-4e44-a4bf-8cf3b3daa3b9 CLINVAR:619752 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de9ef865-69f2-4994-9b0d-52f263262343 CLINVAR:619752 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d3e692a-bbb6-440f-8088-de4dd872e4a1 CLINVAR:100343 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eac8ee82-e977-4b8d-a800-e7f410ebfe63 CLINVAR:100343 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8d0f593-60fa-4760-8991-a35388ad2433 CLINVAR:100337 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45be5ba0-1250-4ca8-9e94-68258434347d CLINVAR:100337 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46265adf-3179-41c3-89f2-20f21b314e8a CLINVAR:293 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24cd4ce9-09b5-4797-a8de-2d1d9156e019 CLINVAR:293 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec7df08e-f1f1-4c47-86a8-5883ae50312a CLINVAR:100356 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3326a04f-c674-4481-86b7-3a25a06b554e CLINVAR:100356 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6cdeddc-41b5-4203-ab6c-10da06f4d27e CLINVAR:284 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60be251a-682d-4811-aac5-52334b2e9e0f CLINVAR:284 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77cc864c-c358-43e0-9bb7-3a95db460b5a CAID:CA383496428 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52629b8d-706a-4839-8d88-1422196e6a43 CAID:CA383496428 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f462ac0-40f2-4df8-97d8-af2dd0f11e4c CAID:CA383495656 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2926c7fa-5979-4c69-a011-c8c54f887aaa CAID:CA383495656 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0d8edf0-8d52-46b9-ab9e-ad17991a2d3a CLINVAR:1723280 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0130588-7132-47fe-ad43-d1ce5193911e CLINVAR:1723280 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64163908-a103-4fdd-8b8e-0b8e5d8156ff CLINVAR:627354 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2679b37-60fc-45ba-b53e-2355732409c4 CLINVAR:627354 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b369de55-29f5-4641-a28c-e0c006750b7c CLINVAR:100450 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b8a2f45-d509-4e82-af25-db5eaaf03dc6 CLINVAR:100450 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44bf7119-788b-446a-9e65-f2d9e45708e6 CLINVAR:100309 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5e68864-9d19-447b-b331-4ba208766da8 CLINVAR:100309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8526fccf-a44f-4e21-a355-ac92bcf78403 CLINVAR:306 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fad339d4-adf1-4616-95ad-279b0bea5b3f CLINVAR:306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb3fb28e-ed62-4c52-aead-8898aecface1 CLINVAR:324987 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02189f1b-d6ec-4c8c-b161-a009fbc2abc3 CLINVAR:324987 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feac3123-b97f-460b-96f6-948c26b37e65 CLINVAR:203572 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0ea5740-8894-4fab-a520-bd426eb1304e CLINVAR:203572 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89eff0b-efe7-4179-801d-abace7d4df91 CLINVAR:889087 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62d18942-a32a-488b-89ea-f8ae31a27028 CLINVAR:889087 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1fd074-d5e3-42e4-a611-262c088127cc CLINVAR:1684006 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bbb3402-eca3-4446-bb08-7dcdf8ff9957 CLINVAR:1684006 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c6b3dad-3e54-4479-a582-ec441bc75cfb CLINVAR:294 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6a5cc52-18ac-4506-965f-46a8ae55d16a CLINVAR:294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ed8f71-bd89-46aa-9809-68ddde2f8d27 CLINVAR:100421 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e87ee887-1b3d-4158-b312-8c2d7d8aaa76 CLINVAR:100421 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c9f57c1-1d02-4f99-bbff-9757b03a978f CLINVAR:100326 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f44517d-67ac-42a4-93f7-c92d0f00cd16 CLINVAR:100326 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a532f216-d7eb-4190-9f2e-05a44ea675e9 CLINVAR:300 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9e440d5-832a-4a49-9bb8-f090b11f35cd CLINVAR:300 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36c79e01-5923-40c9-a06e-0d96e0856bd8 CLINVAR:318 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c238d5af-651c-43d5-91dc-ebc78c4ef717 CLINVAR:318 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f85115da-767e-4ece-80b7-bf3fc28703ee CLINVAR:100313 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9efc9bf9-a9a8-40d0-b03c-b6bee547671a CLINVAR:100313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d98933e5-b858-43b2-8119-a1aa0a9ffcb7 CLINVAR:100308 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aac1e448-b00d-4f16-8101-d1ca9f72f85d CLINVAR:100308 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b9cc9d-1e7a-4bfe-a664-cf305fa7a3e2 CLINVAR:692533 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcc446b1-cd5e-4c94-a240-bff9ece0ee43 CLINVAR:692533 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a070f6-5da4-455b-97be-696ca2121c4b CLINVAR:9720 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b15f9796-5b2c-4846-8f6f-c6157b123723 CLINVAR:9720 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34ad4ab7-5ebd-4594-98ab-cfbcfa4288b2 CLINVAR:9700 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26cdb101-a22a-4157-bfb5-59ae1c041713 CLINVAR:9700 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a42127f-d2c4-4445-98f5-96730aef367b CAID:CA410146486 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d3a7a18-2a8f-4ee5-b929-64f9b646f535 CAID:CA410146486 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6675917d-6fbb-4b16-bebe-8090998158c4 CLINVAR:463980 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e330d695-4552-4a5d-91f0-87cb27824429 CLINVAR:463980 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa526716-00b2-404a-a922-d8372997c0a7 CLINVAR:409823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2799241d-dae5-45bc-9e79-ec427b9a278f CLINVAR:409823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e7bf238-c28e-486e-a80b-f0c5f9c4ff5d CLINVAR:409816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34ef8753-0623-43b3-9af8-f36c2eaae5b8 CLINVAR:409816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc160862-b776-47c9-9169-e6de2fd43470 CLINVAR:239053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d854f26e-92a6-4586-880d-93750ac32960 CLINVAR:239053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840c04ee-187f-4eaa-82f6-c94125584c56 CLINVAR:239041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18277d01-26ff-4fd2-9d2b-fdb3443e651f CLINVAR:239041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7545f8a9-f5b0-4eee-ac70-61bf52470fd3 CLINVAR:1439732 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c0fcd43-9328-4ae5-972b-602ab5b0508c CLINVAR:1439732 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb607b55-832d-4cf0-8fc8-5b36c16eb612 CLINVAR:959039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc7bcfa2-513b-4581-a2e0-9014883f9d6b CLINVAR:959039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61140a67-7964-4486-95d1-ed0ea3084053 CLINVAR:1022744 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1199b17f-2573-4b5b-afa3-d4d88dec19de CLINVAR:1022744 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34cfa8a1-02d5-4512-83c4-126344d06e96 CLINVAR:1466670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10304337-965a-4b61-8b4c-630c08734228 CLINVAR:1466670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 740f51aa-b6dd-47a9-a0dc-7c9be9597384 CLINVAR:1051210 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3f42d64-73bd-4537-a286-48d44b43a052 CLINVAR:1051210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf4551be-e6d8-4014-b9ea-dd8b5ea9ae2c CLINVAR:2166136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13878a0f-e877-462d-b223-fcd6831043c7 CLINVAR:2166136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 866386b7-5fab-479e-916c-77bee0613646 CLINVAR:1338528 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5f5f9c4-f7a8-4ead-94f5-327c35d1ff0d CLINVAR:1338528 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1527a15f-5653-4edb-83fe-497da132a808 CLINVAR:3336850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62a4b4f1-7b2d-4ae0-9279-d4364ea7a78c CLINVAR:3336850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d061166c-be1f-4532-83e3-93816819e0ec CLINVAR:9701 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6b75d04-8ade-4c06-b51d-7eab876c531f CLINVAR:9701 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92d94c39-ac11-4506-b698-52a121f96432 CAID:CA2825000789 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a9b7499-d09b-4034-9fe9-b5cca2aa03c8 CAID:CA2825000789 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 606c3ccc-ac2d-4a40-aa0a-483dcc33819c CLINVAR:18016 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29fe2c31-ffce-4432-bc00-463809dbe3c1 CLINVAR:18016 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a119d34-1c3b-4472-98a7-79a965ac6b31 CLINVAR:18003 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1829fbc-7176-4cfd-b200-f62e4fa7caea CLINVAR:18003 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d280115-0392-4ddb-9c55-22f212f96c0e CLINVAR:18010 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4d70a8c-d24e-435b-869a-3217e0dd2dd9 CLINVAR:18010 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d64d7d3-cc82-498f-acf0-f103f9ac426b CLINVAR:633211 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e628b17-6472-4a56-a703-6b75dbaff89f CLINVAR:633211 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3c4152b-1fd4-4007-867a-23157f5aef2d CLINVAR:42402 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen faf783e8-2e79-4e80-904d-367ccdd6aa1c CLINVAR:42402 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de30331-509d-44ec-b96c-5d436642c0db CLINVAR:200084 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e2f5938-a859-438e-9dd0-1412bf003958 CLINVAR:200084 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfec08b1-e776-4361-a4e5-74ceb2b7b659 CLINVAR:547340 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b53bc6b-039d-4345-a1a5-039701eb2e5b CLINVAR:547340 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97513c6f-c8d7-46e4-af09-09794d1caca4 CLINVAR:429425 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6dc75925-1dd6-4662-8f3d-082c926daf81 CLINVAR:429425 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86fa9e3d-f5e4-428c-8bb8-43464c21742b CLINVAR:492830 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3752eee3-cfa6-4621-9016-9b7aa2184943 CLINVAR:492830 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20492f48-90e3-4c72-950d-6575793e8fe6 CLINVAR:384344 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d66dc0f-84fa-48c1-8e15-6ef108afb1bb CLINVAR:384344 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f98e909-1c5c-4a9d-b1c7-95f91439ed71 CLINVAR:632813 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen feba1143-4e08-417c-badd-08bc37bc2876 CLINVAR:632813 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb40651-e59f-4dec-a48c-df01628a9f61 CLINVAR:495644 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f76f6c91-8178-4af4-b566-38c7e42b8ccd CLINVAR:495644 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff211fbf-546b-4cd2-a9c7-47e30bedee94 CLINVAR:222610 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3342d2c1-257e-4ee9-8d35-e1ec037233ce CLINVAR:222610 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ffdcef-9fd9-431d-b410-7aa070f2d218 CLINVAR:36118 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfd8d7b2-e4ae-4990-a7f6-948ccbe119b5 CLINVAR:36118 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f563c389-b924-444e-b696-90943ff60f9a CLINVAR:571222 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fa65389-7465-46a6-b83d-1b3a836f1076 CLINVAR:571222 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720626f2-cb60-4f1f-807e-052af9de3b5d CLINVAR:423498 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5da87dbb-ead3-476f-b6bd-a14916f8b9ad CLINVAR:423498 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45f974a-4816-49bc-8695-a5339a8ee527 CLINVAR:42436 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd2904d4-f2e9-4f0e-b6fd-1261c4cc7076 CLINVAR:42436 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595d0d39-94aa-4778-9395-4080717a0dd3 CLINVAR:381609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26e3f104-aa6b-4652-aba5-c11032bf9b6c CLINVAR:381609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d67e2ae8-a37a-4587-b73f-2aa14c1bb9a8 CLINVAR:16439 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2304ff8a-a0f4-442c-bd06-85a73d0d843b CLINVAR:16439 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9cd9b2f-e9d3-4aa2-9374-d27251b5cce5 CLINVAR:42443 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 102b69c7-3b1c-4e76-b576-c6d981532192 CLINVAR:42443 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cfeada2-ae03-4d82-a523-4ab12fbf3f3c CLINVAR:547349 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aca99dd9-b8cd-42cc-9f7a-08ff672f8f40 CLINVAR:547349 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70f070cd-1488-4fa1-b6ad-9936dd0bbabe CLINVAR:263414 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93361ba8-d74e-4ae4-b92e-457d286be68d CLINVAR:263414 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b87d53-1077-4705-8c7f-46dffc097d05 CLINVAR:547309 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 383fa67c-5147-443e-9fd6-fb0f39963736 CLINVAR:547309 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dbd241a-942b-430e-94df-32a7e73ac5e7 CLINVAR:519760 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b258bcb9-2013-4c8c-8f9b-e8e2496ff38a CLINVAR:519760 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c99765d8-1335-4603-a360-c9b3ae2319af CLINVAR:520496 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 109596b1-9a8d-46ea-9dda-b7476c0998c1 CLINVAR:520496 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf5b2eb-5ad0-4502-9cc3-c33c726dcd03 CLINVAR:618119 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c35de89-e785-4aec-9200-0af39a67ec22 CLINVAR:618119 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1680b078-1be1-4e07-b0ed-2c0e343e4cdc CLINVAR:547338 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 096c9734-b4a6-4637-9a8a-1d04b9663f54 CLINVAR:547338 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8712913d-b1b3-43d8-bf83-1e218fc4282c CLINVAR:1098776 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 060fe495-1296-4a2d-95dd-0db323632027 CLINVAR:1098776 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07875ed3-33d4-4695-b3a9-042961ac41cb CLINVAR:495662 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f44d95e4-fc02-43c7-b8ea-0c7b3e47ff99 CLINVAR:495662 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ac5638-3bc5-463a-9a54-60f5533d9208 CLINVAR:1791142 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2031fd91-fab6-41f6-8ae8-bc2ae7466f0c CLINVAR:1791142 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e926de1-26fc-4dda-89f1-278603295e3a CLINVAR:205491 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57c16378-b1c4-43a6-b96b-a6c3d106fdac CLINVAR:205491 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c575cf34-c7cf-4931-98e7-cafbb71dd774 CLINVAR:589694 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea45c2b4-1532-47eb-832c-201dbe0f116f CLINVAR:589694 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ce98de-4ebc-4ef6-9f43-e76da442f3be CLINVAR:205483 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e28f4828-1b8e-4469-b022-a34c4995c858 CLINVAR:205483 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 481b62ee-af6e-457e-a893-3f4066bccfd5 CLINVAR:427212 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cf4c7be-0d75-4477-98f7-a478cc1f8668 CLINVAR:427212 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aad46c89-e8cb-40b1-8785-85203cc9c102 CLINVAR:426177 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da8f88a9-3384-4e68-9915-10389f6897db CLINVAR:426177 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe4b16b7-966f-47fa-8435-f16c4973eb87 CLINVAR:418711 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cb32744-f97c-455e-b15d-be9c07026205 CLINVAR:418711 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c1661a-af34-42a7-a28a-c4f547916f0d CLINVAR:2757098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ce379ed-6999-4d72-afdc-13cc5d0c1f37 CLINVAR:2757098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68294897-291c-4fda-8399-991557226c13 CLINVAR:2839411 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d688d27-fef2-4488-8d7a-09e6fa9498cb CLINVAR:2839411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f23b421a-79ea-406d-a8e1-70085dc5b8d4 CLINVAR:2701885 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 430643a9-bf72-4cae-b49d-0a888b5fab1b CLINVAR:2701885 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0311953b-806f-41ae-a9dc-a08718b3e914 CLINVAR:2029556 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37c26bd0-9fde-478c-bb09-6a3376f842a1 CLINVAR:2029556 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b30b2a10-6048-48aa-b5df-668bc98cb4e2 CLINVAR:2911507 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bdafa5b-c95e-41fc-9012-0ec329d0101a CLINVAR:2911507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc9adf0a-caad-4b35-bb5f-642e08f8db84 CAID:CA410148059 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a657104-6826-44f3-902f-7b9e0c402db1 CAID:CA410148059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 507809a0-86dc-4b89-9fd9-0a6644d2ec3b CLINVAR:1211932 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 782eeec1-f89f-4652-83de-ec836295c215 CLINVAR:1211932 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c995d17-03fc-42f5-aa7a-53fbc12851f2 CLINVAR:2840535 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30262a03-d673-4ed0-99de-381694ead915 CLINVAR:2840535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5823bc6b-535a-4aef-ad47-bfcaf1f63f07 CLINVAR:2808406 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f289825b-e7c6-4ce6-a5cb-1597fddf437c CLINVAR:2808406 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af24ac8b-9666-4922-b96d-d8757a7d6ba2 CLINVAR:2857333 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bb391b4-924a-4a92-b50a-128ca1d4910b CLINVAR:2857333 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16dde73f-8af7-42aa-b91f-84e46501d9ae CLINVAR:2857331 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22ace249-cf3e-4c8c-862d-05c861968fef CLINVAR:2857331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d47201b-c569-42f6-b3ba-a7afef94c8af CLINVAR:2746077 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 070eff23-a0c1-4801-b49d-21b943d2c36d CLINVAR:2746077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2259f041-d62b-4605-a0bc-e3061ed8cb16 CLINVAR:2808511 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 299b7f63-dd24-43de-8f06-17442306d5de CLINVAR:2808511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315c43ac-38c1-4fc3-a564-f4a7c987df4b CLINVAR:931873 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e8e55dc-df32-4c12-81c4-e60bcee19a77 CLINVAR:931873 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e700acac-708c-40ff-9697-44926a0aa971 CLINVAR:435438 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 864fa932-3255-464e-bac7-3c8a922759d7 CLINVAR:435438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 251a7974-621a-43cc-8de4-0e612fb2e6fa CLINVAR:447522 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49d989e9-dac5-4365-98ae-24a60c4fcb22 CLINVAR:447522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a03acf-052a-4bfb-9fab-04f57cb54c1a CLINVAR:9210 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1329bcdd-306a-432d-8c18-3c12445bd7da CLINVAR:9210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82eb720a-3440-49c6-a91e-4240cde72864 CLINVAR:437910 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be7a5d38-5796-4358-b8c3-3309a41ad857 CLINVAR:437910 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d961b3c-9d56-4df6-835c-9e90edc7cd52 CAID:CA2695217482 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6dd71a5-3fd0-4c3d-91ee-2fef37b954c1 CAID:CA2695217482 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07c980c7-bb41-4446-8d93-4cda70567d69 CAID:CA2695216034 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5d137e5-5bc3-47fb-8a28-ce7d34a095f6 CAID:CA2695216034 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 551aa2f7-2d41-4ef8-b5c9-d2bb91d7fd72 CLINVAR:100231 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f0684b7-caea-4e7a-bc38-4effd083b871 CLINVAR:100231 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a37916b-4e81-41b9-afd3-88a7ebab848d CLINVAR:507529 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0da96c7-8dc1-49cd-adcf-8cf2f7f856a8 CLINVAR:507529 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd2d2fa9-b1a9-4143-840e-1071a2a72c4c CLINVAR:510672 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2a16dfe-7a17-4736-a098-0295def619dc CLINVAR:510672 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45cd6b00-20ed-4dc4-bcbb-0d684493fd14 CLINVAR:193975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 822d6667-2bcc-4a3f-b2ba-702e1a5b80eb CLINVAR:193975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8661d8da-8133-4165-9adc-74daeb382504 CLINVAR:864108 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d4ad188-a117-45e8-9457-4c0684c003f6 CLINVAR:864108 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7eb7846-5f78-4a1f-8d39-d2e09d9c60bb CLINVAR:642648 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34ba4112-6483-4b9c-bbdb-7d221d395873 CLINVAR:642648 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 067d3418-be29-4585-a145-4fb27669577a CLINVAR:182963 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9bb4055-dd1a-49e7-80f3-8353873eb547 CLINVAR:182963 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02db88a7-fe2e-4449-a790-e69108a4757e CLINVAR:12374 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59a661d8-d4f9-49c5-a355-e8a9cb38366f CLINVAR:12374 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67fba840-e0fc-4ed7-af63-265b1c5100c1 CLINVAR:376649 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fc24b85-8ec5-4729-b8e7-e3b07e8908af CLINVAR:376649 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6804ccb-2024-448b-adab-f992c9dc1b4a CLINVAR:215996 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4f913e7-db6b-4cc4-998c-25d6080c39c7 CLINVAR:215996 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c75e041-e521-4474-9a26-2529f02776fc CLINVAR:12371 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e7cdb15-93fc-4511-af2d-cd616fada348 CLINVAR:12371 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe1a435-9ce8-4cdf-baa0-96018466ed23 CLINVAR:102645 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1176e38c-e1a4-4350-a253-8c4ac7ff9f58 CLINVAR:102645 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b6f90c-cf1a-4880-8b7b-89916636cd93 CLINVAR:102728 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b0ea79f-3242-4143-8c37-17db16a61cef CLINVAR:102728 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a1df85-3b03-4719-8a99-f5697670075b CLINVAR:102575 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e28594c8-f7bf-4407-b64a-34cd1574d7ac CLINVAR:102575 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77254fb3-6782-4ff1-8d2a-a7bc9e863b14 CLINVAR:102895 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 434ed24b-84e1-4c81-8606-258cb8b71d58 CLINVAR:102895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8306062-a842-4bc2-934d-6a41d825b75d CAID:CA16020839 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96c845f5-4247-423d-a065-287efa61d7cf CAID:CA16020839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2ef0e3-a8a6-4d6d-a6fd-5b5fcdfe2bc9 CAID:CA16020814 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40a70dd3-48ed-4fcf-ab89-06679345eadd CAID:CA16020814 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7417870d-f1a2-4101-aad9-4d94bf737236 CAID:CA16020783 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b16e18e0-7b01-43d5-bb33-34bc15707dfa CAID:CA16020783 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ceee26a-df53-45b5-9410-e6ef9b9cf86a CLINVAR:252114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6618eea-c6e8-4222-a572-c0e6c0bdfc22 CLINVAR:252114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bbbe4e9-f9de-4ecf-a0f5-fafd086d8528 CAID:CA1139655403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 519d703f-2b97-4ee4-beec-1ecbd2c63f00 CAID:CA1139655403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1b61f5e-5971-4fd5-b246-d212661b71f2 CAID:CA386965322 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e789890-1bca-4b91-af20-1a153ea2f655 CAID:CA386965322 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6235899b-9c8b-4693-b699-298de4921025 CAID:CA386958847 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 519f53d7-520b-49ec-9a77-21ae005310ab CAID:CA386958847 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53e87c70-3fb9-499e-a592-c84c70bd048a CAID:CA2837589098 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d65aa9d-96ff-443b-907b-193b9d9cff7e CAID:CA2837589098 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df8570b-5007-4e93-8ed0-8f24c2f28455 CLINVAR:972751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8988978a-e2d1-40a2-b95b-6e1cf10ae413 CLINVAR:972751 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fea1478-04c8-4fc3-b2bb-0edf666bc927 CLINVAR:2746579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14ca6a98-b4c2-4a9e-8891-dab043b8432c CLINVAR:2746579 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de2d0db-7ae7-413a-a284-9316c74deb42 CLINVAR:1398400 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90c2fff4-7700-4de4-8041-1bef33de9acc CLINVAR:1398400 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b50be5e-436d-498f-af8d-02ea062fca7b CAID:CA409106119 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d050efb5-4c58-40a4-b71c-e8356b65b4f6 CAID:CA409106119 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7730ff6f-17a0-4afe-99f7-8d156590eb09 CLINVAR:586009 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df0eae0a-6674-48bb-96a5-de751e0fdeec CLINVAR:586009 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9450a8fc-9fbb-4ccd-b14b-463aabb131cb CLINVAR:977222 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41e923e3-7c7a-4682-92d7-0bc3be75421a CLINVAR:977222 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aaa5082-dbe9-4019-a7da-f6a49bbdd58e CAID:CA1139655404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 318d2342-af86-460d-b9ae-b64ce4d931a4 CAID:CA1139655404 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f413c453-d396-429e-b207-4fd449f8eb3d CLINVAR:425733 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eac96328-44a3-4e80-b57e-55851418bf93 CLINVAR:425733 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dfe1368-b75e-4d54-87f1-c0896515a841 CLINVAR:425842 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2c3fadb-87d0-4490-9c42-a3ddd1b2ab47 CLINVAR:425842 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da6302c6-05d0-492a-910c-790efd3e1117 CLINVAR:425844 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c5d9baa-3c9d-49e5-b049-ebcf60437854 CLINVAR:425844 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b0da913-143a-47dd-9836-7a53632f1160 CLINVAR:2854758 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03efb3a8-44f3-497d-8260-71968187db89 CLINVAR:2854758 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37e60171-95a2-42e3-a9ca-9ae94e730efb CLINVAR:2635335 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73417604-dd46-41a3-8581-31d6cd447900 CLINVAR:2635335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c19b72a7-3962-43e5-9420-07403909b818 CLINVAR:2820865 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77eaccce-cb01-46f6-88ea-27ebbd931762 CLINVAR:2820865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf63e2b-78b5-4183-9c09-fd45c5fce69e CLINVAR:2759299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87754815-5dfd-4597-a916-0ee658ca4b93 CLINVAR:2759299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 927ad987-f5d5-46a5-9f95-7c2b423a85f2 CLINVAR:2705087 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be1dbf43-12c8-43a3-a746-d53150c44982 CLINVAR:2705087 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f07d605-51fe-4004-bd7a-468e63da80b3 CLINVAR:2101398 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fecf4bbe-b06b-45e8-8b99-e3c5abe278f6 CLINVAR:2101398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3361b156-1838-4804-92b7-2224733e95dd CLINVAR:2106464 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d82006fa-af20-4ea5-85f9-55dbd4ea996f CLINVAR:2106464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0d2a4b5-149b-4d28-9e76-c529523729c2 CLINVAR:2579542 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e181bab0-b787-44a0-b6d1-5c2580d6d2d6 CLINVAR:2579542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de3a5dd2-e6c1-463e-afa6-1046807ae6a8 CLINVAR:2028205 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5149aa3a-20be-48a7-b537-e8b288a30acc CLINVAR:2028205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d1cf3e7-bf0d-460c-a52f-01064386935b CLINVAR:2008798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1113270-4f28-4a91-b4f9-a61feeaf5cf7 CLINVAR:2008798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5303866d-f2d0-4fee-950e-39127a309c58 CLINVAR:1684398 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ff5eeaa-50ef-42a7-a927-8e2423b09ef7 CLINVAR:1684398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdfd104e-e15f-4d7b-aff6-6c6a6dcee82b CLINVAR:1460663 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a46133ef-5ae1-4649-af7b-e9e84fec81e0 CLINVAR:1460663 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e946306e-f8c7-40cc-8e79-e876f7f3e14f CLINVAR:1338564 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04c15a26-35dc-48de-b580-b417aa5f9750 CLINVAR:1338564 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86c9cdb8-af77-4aa8-a0cc-24d4ad6cac2d CLINVAR:1041897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 019c4014-ff00-40f0-ac7d-28a10525a73a CLINVAR:1041897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4339b19-e491-4245-b8fc-9036a1ed69f9 CLINVAR:1045299 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a875143-43d5-411e-89a5-7660b131134b CLINVAR:1045299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5981fe0e-ccc3-4bfa-b3f0-551fd663468e CAID:CA410207977 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e443dfd-a122-4b02-86d0-427ab5078c3a CAID:CA410207977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e420100d-cc7b-42b4-969c-fd1778245616 CLINVAR:2092471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcf0e48b-a341-45c4-94c0-a229dea37736 CLINVAR:2092471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0117fa8-8fcd-4929-b848-cc2347bbe289 CLINVAR:252115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5154e7cb-d0a8-4485-af91-a951a8ac5026 CLINVAR:252115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c64228be-9a7a-4225-8f7b-ce605e8dea43 CLINVAR:205591 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e83544fd-6143-4192-895e-1c9831236101 CLINVAR:205591 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f83f0b-1b3e-4daa-bb6d-25fa5b3c78d1 CLINVAR:2137773 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70e15925-4622-43df-b79a-829bd87dfcab CLINVAR:2137773 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2015dfc2-36c8-47bb-a04a-b5cbce9b2487 CLINVAR:205582 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eab08d4c-4e99-4222-827d-8a33609490d2 CLINVAR:205582 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d35bc2d9-f7af-4200-bf5c-f3f8dfaa118b CLINVAR:2815164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb1ee9f5-2d22-46c8-9dbf-5bdc4b7f7efa CLINVAR:2815164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6edcd98-5460-4242-a414-8ed0ad224357 CLINVAR:1142221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad3ef389-aaa6-4344-9ef3-0e7d5be11360 CLINVAR:1142221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82dc1506-0d93-4ca2-a21e-7860a611cd53 CLINVAR:2042433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b57e8218-6c60-4382-867c-076b1e7d5051 CLINVAR:2042433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de7f3e5d-f865-4679-bac8-5057099c9348 CLINVAR:1473511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0d7344b-0ac6-4316-aee5-838b7fdb9848 CLINVAR:1473511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cd7959d-b1d8-4ed1-ab33-54dea08879ec CLINVAR:1349433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 839401e9-a795-4d7a-98bf-d0abdd4ae24d CLINVAR:1349433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ca07645-3958-44be-834d-05495aea33ab CLINVAR:2769013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cbfdfd3-f927-483c-8c42-8111da8d2ca5 CLINVAR:2769013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa02a12-904d-4019-ac59-72b6936dfc3f CLINVAR:1967828 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9289b716-62e0-4904-abdc-ff5b61004661 CLINVAR:1967828 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec9ac9be-53e0-48fb-a892-08a1406ac35d CLINVAR:2958710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e76afdaf-93a2-4fb8-9791-6dea35ef6c32 CLINVAR:2958710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 339ce475-8317-4738-8258-c08115775aef CLINVAR:2912699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 200ccde9-2b03-4cc2-8894-c09b4a9e0c68 CLINVAR:2912699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7039066-b007-4563-9b4e-dd91ceaca5ac CLINVAR:2825312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf394d65-d096-48bc-b214-92580fb94f37 CLINVAR:2825312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71edf969-9915-4c5a-8241-168261810d91 CLINVAR:2763182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a59baee2-d06a-4c86-8d40-4c8ae240af8a CLINVAR:2763182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 353bbec4-c3c2-4b0e-898f-55b8180e5d80 CLINVAR:2807004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcdf5e24-0e26-46f9-a44b-bd8ab755670a CLINVAR:2807004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 916ea943-4065-4353-9fb1-5ab0944c0d27 CLINVAR:2737781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df4f1321-bc8c-4263-ad0b-b0022e2d1039 CLINVAR:2737781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08b187a1-72df-4e8c-8250-d49e96e6f33c CLINVAR:2737296 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 957b1b87-6480-45e9-9a7d-a78fe18dcf48 CLINVAR:2737296 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e936fbe6-fe87-494d-8646-0a1d344acadc CLINVAR:2917126 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eadd63dd-0754-4469-844e-62fd13c20316 CLINVAR:2917126 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3852c7ff-f132-42cd-9fd9-a4ea52fed810 CLINVAR:855888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa72a1e4-7315-4fd2-ac19-371213f8759b CLINVAR:855888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9948c4df-a101-4188-8b2a-c7f5b65efb32 CLINVAR:2695627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0abfdd3-0772-4000-b03a-5e7ab529a5c7 CLINVAR:2695627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 117e1250-1027-4a69-8649-afec406236e1 CLINVAR:1002574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7418b0b6-e52e-4e82-ba00-6a34966f5aa8 CLINVAR:1002574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ad0111-8a6f-400d-b538-6edfdbb7d28a CLINVAR:1487422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61abe210-d0c5-4dd3-afe7-3a38b5a565c4 CLINVAR:1487422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6bccf9d-41a2-47ff-aaaa-1f67159435a5 CLINVAR:1006857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c9319cf-ae96-425b-be15-76062e792bc4 CLINVAR:1006857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 281b667a-ddca-4df0-ba86-56c67aeae578 CLINVAR:2725991 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c692876f-6cd9-46ca-a8f3-ba0dcd44763e CLINVAR:2725991 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 860ecf7c-bed7-4497-9b9b-72763b4cff1f CLINVAR:2916977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c79d475e-d169-413e-a655-ff1ab3cf7e36 CLINVAR:2916977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3977da25-5ccf-43b9-ae94-6f3c9b86ddd7 CLINVAR:2823780 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 877f36ae-9270-4760-bcdb-82a5c24e3bfe CLINVAR:2823780 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e1065c-f535-4cef-9212-c8101e723a22 CLINVAR:1363734 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ffd0e47-761e-423a-9b29-272971458a06 CLINVAR:1363734 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4661ebf-e14c-4c6c-863c-2132ff46c132 CLINVAR:3009082 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b0efb83-800c-486a-8ce9-973f8b2224cd CLINVAR:3009082 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7dfa722-e8a7-4de6-a61c-98a373e7443d CLINVAR:1507948 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4efbcf5-c2ca-4516-a8ca-f3e8357730d1 CLINVAR:1507948 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 500a3741-0f4a-40a6-ad45-b32f2d7bebb4 CLINVAR:2734274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41002015-78d3-4df3-8261-bf420fb09bf6 CLINVAR:2734274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b09c0247-c19f-4d14-812d-84fbe170d9f2 CLINVAR:1470171 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44c969ac-dce0-4236-8d6c-0a8a406133cf CLINVAR:1470171 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d609c4c-8b81-4a3e-9c9a-370795582a73 CLINVAR:2718142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59977571-91d8-4087-a556-7ed1f141f23d CLINVAR:2718142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4586ac39-64e8-4f44-878b-e9739ef7736d CLINVAR:2630595 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a0d2049-92d0-4790-a58c-6fb89f4fee51 CLINVAR:2630595 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9fa843-4cd2-465e-bbc3-19159ffe8d57 CLINVAR:2972103 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e2328e4-03c5-42a3-a9d4-d2d92e77b312 CLINVAR:2972103 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f923554d-4569-4f71-8963-5d1e8427bee1 CLINVAR:1400931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e80095d1-5e8d-4418-903a-0937f79fe7e2 CLINVAR:1400931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09271e60-12e8-446b-bfb7-18c686d674c7 CLINVAR:2850045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb1e4e9b-2ef5-469c-ac30-36c87a821389 CLINVAR:2850045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61d9131-42bf-486d-80f3-4811a7c55cf4 CLINVAR:2716140 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d85fd635-f7c5-4508-8e3e-2c163905351d CLINVAR:2716140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd9081a4-b25a-4720-9955-e60abeda4b05 CAID:CA2830665544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e42b3715-e700-4279-acf1-e26730991563 CAID:CA2830665544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2069d334-4b53-420f-8ad9-2cce3aace9b4 CLINVAR:1463552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59301605-59a0-4304-9cf3-1d157d751767 CLINVAR:1463552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1efd2bc-dede-4f7f-866d-6ea89eb82a65 CLINVAR:252173 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 484e0939-6197-415c-aec8-aee3808e5f85 CLINVAR:252173 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb6cad5-f2fd-4f81-b1ff-d467ea0df604 CLINVAR:3712 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2051f19a-187e-4d45-b0c6-4a65b38635c8 CLINVAR:3712 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc1e4411-51ad-47b5-9811-f4c586fdc451 CLINVAR:2637205 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2599b22-b325-470e-bf33-8dd924352758 CLINVAR:2637205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0fce117-cf73-4b2c-ba29-1a2397f29417 CLINVAR:2730931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 663b77ed-fd8e-466a-a94e-883a9f437124 CLINVAR:2730931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8616d594-8068-4fcd-8da9-15a4872af0b1 CLINVAR:2764958 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2583b3b1-a209-4d57-b4cf-13cdf673c127 CLINVAR:2764958 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6e9c4de-e6db-4076-82a1-bfa4f1db03df CLINVAR:580765 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7a1de5d-4e0a-4df2-accf-b613ddea1c01 CLINVAR:580765 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beacc29f-9171-422f-b566-ded936daa5ee CLINVAR:1057975 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2a884e9-f284-4240-aac4-3e84087ec644 CLINVAR:1057975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8661c6a-d247-4166-ac7a-3f71c9809375 CLINVAR:1438740 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a88e47f3-9bb2-4671-aae9-c57e5661b679 CLINVAR:1438740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6748b8e-9b73-4ee8-bf39-b3bf2db5744c CLINVAR:812738 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22290f61-9542-45d2-a2d6-5e67481ff9a3 CLINVAR:812738 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e3a56e-2c38-4c5f-8274-1baa0dc42800 CLINVAR:942577 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8647b478-0db2-40bd-a21d-92633d0a6fec CLINVAR:942577 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bdeaad5-3bd2-4454-9761-7649ea3ac37a CLINVAR:1437357 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a0458b1-d789-4ca3-a5f5-fbba6528a3dd CLINVAR:1437357 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72253057-40f8-425a-8953-50d9971fe97c CLINVAR:463999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29ceb255-7493-4d3e-9ff1-13298191bf4e CLINVAR:463999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26495ad3-b1c7-4c87-8c1e-73b18e7ef8a0 CLINVAR:463977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c13dc4e7-bd40-47bf-a9e7-d8e013870f79 CLINVAR:463977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26dfcc35-bb25-48e2-87a5-81a116188b5a CLINVAR:3340471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f597c9c-8b3f-4523-8808-7bf7c1098585 CLINVAR:3340471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a22a98-25aa-4c1e-9349-433c9c6f01da CLINVAR:2846862 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a97e3233-6d4d-48c0-bc4d-245f8a71c46f CLINVAR:2846862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e5f2a6-3c3f-4728-98a6-517eed05ff6b CLINVAR:2719217 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ddcd24a-5c2e-461e-a9e4-f6a1cfd88638 CLINVAR:2719217 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a94167c-32a4-4ed6-b3a1-cd417cb33d7f CLINVAR:897094 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01ea946f-4e0e-4e6b-82c2-13ba3085f87f CLINVAR:897094 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4dc30cb-fd8e-4e35-a024-65668b515365 CLINVAR:2743644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0f01c09-2607-47b1-8e6d-db05215767b7 CLINVAR:2743644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e61706a9-3b67-4fa1-a4bc-eca5c8dfc937 CLINVAR:2789785 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4972741c-317c-40e2-af35-7eb9132dcdee CLINVAR:2789785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5d850c-0cf0-42d7-a8cd-d277deb92bcf CLINVAR:1014373 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 029a8049-2b81-45d5-bae2-653471c939dc CLINVAR:1014373 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddd6f8be-34a6-4321-900e-d3a356123fe6 CLINVAR:339798 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da62788f-bb28-4980-81cf-92de6522918c CLINVAR:339798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bcbf417-965f-4eb9-b854-d4be17376c84 CLINVAR:2678494 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bd0e3de-5404-4e75-887e-00c788205e97 CLINVAR:2678494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a90d2b09-5126-4fac-b528-ac2fe1402bf9 CLINVAR:2993180 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60bd4d67-c4c1-470b-8661-3025e96e82ea CLINVAR:2993180 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 203284cc-81e1-4478-bf91-657c4ae64dac CLINVAR:339819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94f75ac7-d01b-4928-838c-f9d9eea8adba CLINVAR:339819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c184499-741d-4c6b-ad49-16e11ef003d1 CLINVAR:2769330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bf61f59-3c4e-4426-b0d9-9a8c2d34f509 CLINVAR:2769330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c662979c-98f3-42ba-8656-c951e7bd5407 CLINVAR:2805900 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3107514b-de3a-48cf-9f5d-b5cf48d8055f CLINVAR:2805900 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63c3df7-7bf4-45af-baba-c9d02406cb29 CLINVAR:2696801 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3543227f-106e-4eea-a014-ae03e3ebb3bc CLINVAR:2696801 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ca0b75-01f0-41ed-8ce7-d5fad8e3a234 CLINVAR:2826469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aea2f36b-7fd8-44e5-8022-9cdbbb19129b CLINVAR:2826469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5308199c-a8db-4459-a341-fa1ce42e9a71 CLINVAR:2839110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e678cd8-5118-4dc0-9f20-ca11323d819e CLINVAR:2839110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b5cf19-a589-4aa6-b2c8-3df242c720df CLINVAR:2791325 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5531a994-2fa0-4696-88a3-a675cbd4a75f CLINVAR:2791325 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3105afdc-ea56-4d29-a939-dfbd830d8231 CLINVAR:3017323 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25521d57-03e7-45f5-ac6c-8d557baf18c9 CLINVAR:3017323 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 591bec5f-d99e-4822-85cf-e817f2d74c95 CLINVAR:2814028 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2432f7e-e4c8-4348-8a9e-7b3bd33c37a2 CLINVAR:2814028 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59530fce-1dc8-4f8a-b101-ba2518506c73 CLINVAR:2852638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ffe1c64-7bfb-40e9-b791-50c2aeb9ffc2 CLINVAR:2852638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f9e66a-a5bf-453e-aeb2-6b69a7696372 CLINVAR:2699552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b5f0802-3912-4784-ab87-2e55f6c7c673 CLINVAR:2699552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b38e8728-f303-40d6-8757-d09f2f974cae CLINVAR:2662455 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5ec4eae-8a41-4283-b4a0-fad2793bc5c3 CLINVAR:2662455 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe5d191-c3c7-4e19-bed0-64d143db879e CLINVAR:1362194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f3dd8e4-d35d-409d-b0d1-970eca8d375c CLINVAR:1362194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d28a20f-b925-4e8f-bf38-e44f257fa475 CLINVAR:2021813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f66a095a-682c-46a2-9d7a-4fee4c1cb09e CLINVAR:2021813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6120a6c0-a0f5-4358-8f7a-abcb6eddf8f7 CLINVAR:1388634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b06ff35-7122-431a-b64a-879277b82356 CLINVAR:1388634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c506d564-b774-43cf-b987-e7f4e3e21792 CAID:CA2830665545 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4f4d3eb-ba06-423a-8972-74a33813cb15 CAID:CA2830665545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bd9c18f-d07b-4350-a623-da0e2c929683 CLINVAR:3241647 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 091364d4-1179-4fd2-82d1-b29d83d59ccb CLINVAR:3241647 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d6ebb83-169a-4814-8e33-8b0cdb1bff5d CLINVAR:180142 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5074a932-5424-470a-8d68-b8363839b7f5 CLINVAR:180142 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ae8985-2497-4b4c-8bfb-e1513c3b73e9 CAID:CA409104130 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a8c1ae6-da89-491d-838a-09ec2739a969 CAID:CA409104130 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48463d51-cee1-4815-a23d-fc6e51001641 CLINVAR:586023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba24094d-1e73-4d88-b151-07c6229e018d CLINVAR:586023 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da649239-5651-4255-9037-2b0fdbc9dbaa CLINVAR:660789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7356c50-4965-4a80-9950-527695c5586f CLINVAR:660789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cd804af-ee6e-45c1-8b13-2eab750713ae CAID:CA1139655402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0944c44-1a9e-4a82-aa59-98c1fd44ee13 CAID:CA1139655402 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de2a7ee-cf16-4f2b-b665-81cadcce7494 CLINVAR:950322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 002aed09-0498-4553-8320-fb02551f18d7 CLINVAR:950322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77601e6-b2a8-41bd-ac83-ffea08cc4d9e CLINVAR:639328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ee13687-5ce3-4aa4-9683-fff6734f3f51 CLINVAR:639328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2feda47-810f-4d70-9f15-2ffe0b761b82 CLINVAR:1315930 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fdc6627-76bf-49fa-a099-f862fc033125 CLINVAR:1315930 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36f5b7e-9d3f-4a1d-990e-8f29836eafce CLINVAR:1973721 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3855e437-2283-4ef8-be19-55b8a94e5950 CLINVAR:1973721 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86627e69-5333-4224-a53d-3769d3dd620c CLINVAR:1684386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9c3cb9d-33af-427f-a875-9b47fec1580c CLINVAR:1684386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15702da8-7116-4eb0-a597-52db480159f2 CLINVAR:1064169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cd6f441-a2ff-4264-8346-47730bbd8e18 CLINVAR:1064169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaff372a-614a-477b-8347-4e9388919c52 CLINVAR:854013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7438d9d0-2a9b-45f8-bb6b-96b532bab5ef CLINVAR:854013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6db9b7cb-7a2a-4037-a78d-2d761e4e90dc CLINVAR:859484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46cbcad5-c8c3-4690-a4e2-35ec7bfe1b9d CLINVAR:859484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dea9166-dc5e-450d-81fc-4c31ac78463b CLINVAR:2718511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f8d74a3-3966-4e35-b353-447166a190db CLINVAR:2718511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca3524c-775d-444b-affb-cc88674fe229 CLINVAR:1506422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef42209d-a8a1-4229-89da-789eab91ce72 CLINVAR:1506422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8f4492a-3993-4a37-975e-9673fd9f66f1 CLINVAR:643883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1eb2a39d-6093-48ba-9f8d-57bfcd8bc79f CLINVAR:643883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d588bc-bb32-4dea-9f81-e6af912e2a56 CLINVAR:1485668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bfab7e4-d7df-44dc-9da0-6bcaeda3cd2b CLINVAR:1485668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 967ad52f-4ad2-480d-b40d-f3f800239c12 CLINVAR:949250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27162c1d-f877-4949-97c9-20fc1d39bc09 CLINVAR:949250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33a56597-474c-4af2-a072-31ef0d48adf3 CLINVAR:1065582 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4f8672d-29c1-47a8-abe2-52cf93b75f60 CLINVAR:1065582 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74acea7a-13e6-40d7-9941-43e89b99f8e4 CLINVAR:2435494 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56e2aeac-bf20-4338-b70e-b29eb02bd6c5 CLINVAR:2435494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1161e99-4c73-414e-b14c-43e15ca8b0e7 CLINVAR:339800 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0c4c202-44c0-49aa-be01-76fd60648096 CLINVAR:339800 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1548ca7c-7320-4700-abf0-c6d25d5794b2 CLINVAR:576865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8c3fe3f-f156-4903-8936-f95c12d1495d CLINVAR:576865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49fbcd0c-5f2b-4a7f-8b5d-eb7151ade771 CLINVAR:971769 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ff4122c-7db5-4f02-9c71-3cfcefe41a06 CLINVAR:971769 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80e3d64b-2a94-476c-899c-b410015fe5e5 CLINVAR:840423 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cc61c6f-bb1b-40da-94c8-decea33bc7ee CLINVAR:840423 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edeaaaab-a981-45e8-857e-9849ea124184 CLINVAR:1009408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74090c29-35cc-4157-8c7a-e765c440a7a2 CLINVAR:1009408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e563003-9b5c-45ed-945d-3536639f852b CLINVAR:995686 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79599baa-dee5-425c-a459-9b7c4de5cb44 CLINVAR:995686 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e19a5cab-7695-4fd9-b5ef-415a274ca2b7 CLINVAR:213212 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 617bcb4f-03f2-4208-a3b2-29529c51017f CLINVAR:213212 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 818f0966-27ca-499a-b314-4d05d1bffb2d CLINVAR:587965 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afb2a300-0949-477a-97f1-6f8c1de27fb8 CLINVAR:587965 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5352878c-704b-4e43-82e8-baea15877a1f CLINVAR:425876 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ce131bf-b692-4afd-a601-efcab658ef8b CLINVAR:425876 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91a05067-ea1f-4395-af0b-b5b183edc45e CLINVAR:425702 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2d8ac8f-7b05-49d7-b276-752a41118816 CLINVAR:425702 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb3d1ce1-a4c7-467d-acbb-5e4d16df9b87 CLINVAR:425864 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f9f646f-6773-4679-ad61-71321fe89aa7 CLINVAR:425864 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f018b493-d1fb-474f-be13-2232a74c9866 CLINVAR:389672 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 506ba7de-a884-4b5e-8ade-14ebaf5e98d9 CLINVAR:389672 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e8af75a-3a17-4f2f-859e-cad6f8b78d7a CLINVAR:1940407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b368b99e-7d07-467b-901f-ff04dc47e1d2 CLINVAR:1940407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e47023ab-797c-42d2-a854-20e28581d9ce CAID:CA386959765 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8599a447-eadf-490a-968e-e32339022c8b CAID:CA386959765 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a3f8568-95d4-4eee-ad69-30cb2124d278 CLINVAR:1338462 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b5eec88-12da-4b45-97ba-02562bb0d4e1 CLINVAR:1338462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9961b559-8301-427e-9e8e-6e104a2124e1 CLINVAR:252096 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6860274-6b28-4415-9a93-093dcd388f2c CLINVAR:252096 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a089d3-ebfb-4fd1-81b6-309cc08b7f7e CLINVAR:161284 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b15c05ff-eedd-4970-b192-4e9f1c5eaaed CLINVAR:161284 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1268005-9d0b-41f4-bc11-7afebb25bf0b CLINVAR:251845 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5bf06b7-0988-4277-8c3f-ec4c6ed4965a CLINVAR:251845 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a224c69-2026-4b4d-83f6-09f28708cd5c CLINVAR:251844 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb3874d1-c70b-405d-8607-31050f5da60f CLINVAR:251844 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc9a5ec-0b3d-40ff-9163-3fdd743637f2 CLINVAR:251846 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 218febae-5f62-4710-ac0b-92b66a2ab432 CLINVAR:251846 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8548a7e3-7f83-4d2e-9356-204fe11ecf49 CLINVAR:189297 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c832dd1-e2fa-4fb4-b258-bee95ce6e08e CLINVAR:189297 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f5597f6-8aa6-4ae3-ada6-8230c9ccdb80 CLINVAR:438325 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74f4c3cd-5194-48f2-a82e-043b23015102 CLINVAR:438325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fde7d4b-d2df-404d-9761-12e7f71aa384 CLINVAR:375822 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c260f4b1-c990-4840-9909-83331e97cc98 CLINVAR:375822 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5dbe8f5-7a8a-4c2e-beda-4c6aa17c2e91 CLINVAR:921461 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c95fe4f-3888-4ab1-87a1-e106bf248361 CLINVAR:921461 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb68d8b8-d1b5-40b7-a7d1-f70961e6c6f8 CLINVAR:251881 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c6d2dee-4f5e-4006-b876-e73379ac188b CLINVAR:251881 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9225742-a999-4f29-8e93-7c3b21d77da2 CLINVAR:926176 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3257718-0862-408f-aa9f-d8761f627faf CLINVAR:926176 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aecd3bdf-7a80-4f8f-b6f0-14ec7c2c14df CLINVAR:251249 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1cc6e89-d445-4e09-bd47-6020eb41eb2a CLINVAR:251249 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 500cee46-57a6-4847-b450-c4b208f89688 CLINVAR:251252 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc5b39fd-4d87-4ffa-aff6-ceb41f4cad41 CLINVAR:251252 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79281903-668f-4bf9-bcdd-9d51f6e13b07 CLINVAR:183089 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c2e5d0f-747a-4322-b1fd-ebc99d3b61e5 CLINVAR:183089 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb695d9-c32f-4633-8f5f-3e872e67e13c CLINVAR:209088 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 811645f3-395e-47b5-adf4-9c3f6ca4a9fb CLINVAR:209088 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af99d8d6-c0bc-4381-ab61-42750d008318 CLINVAR:289969 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 034d9263-1c9b-4fdc-9ee6-2f974465a21c CLINVAR:289969 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0001f4ee-6c78-4f45-bff9-218bcb4f23a0 CLINVAR:373089 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6ee7c0e-92b3-4491-91c8-43e7f3866280 CLINVAR:373089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73d06393-9630-4484-992e-5ca44652cc6f CLINVAR:9447 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb0f8f20-b772-4cd8-88d2-6dfbc879bc80 CLINVAR:9447 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 766a3b18-1a72-492f-abc5-b7d610a2d1e1 CLINVAR:626912 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c9d3e4f-6e50-43d3-b53f-48cf045985b1 CLINVAR:626912 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc380aed-0d6c-4cae-8452-d67c035398d7 CLINVAR:222971 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17d6b28e-a1ca-4f56-a3b4-06d76599ca34 CLINVAR:222971 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ccca9e-8c5f-4acb-ba87-38a425cd2a53 CLINVAR:13902 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c7e1ea4-d006-4db0-8448-81127b5b6abb CLINVAR:13902 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9114d988-54a8-44f1-b3d3-cf6465761402 CLINVAR:1319383 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f28781fa-df93-4b99-afba-342905499ced CLINVAR:1319383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77f055f-ce7f-4ada-ab6c-cdcbf94fa44d CLINVAR:2121544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dddfd546-d2a2-4239-ae62-d01bcc88daba CLINVAR:2121544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88e0b060-89ce-4012-90f8-b73f5189770b CLINVAR:864271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7f81287-8722-43e8-9e87-ab199eadbd51 CLINVAR:864271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd1d32c3-7366-4d1f-87da-2d7072d2adbc CLINVAR:1435320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac4e70cb-7d4c-422c-aa89-0c8d2ee76be4 CLINVAR:1435320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73dc5b6a-7c70-4f11-b79a-15afc72960c2 CLINVAR:582967 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2314c4bd-7624-47b9-85f7-92d9e9c9919d CLINVAR:582967 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44757925-c874-483c-b2ff-571e938cfb25 CLINVAR:2038636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea1b32a1-9adc-49c0-a5c8-e77485255aea CLINVAR:2038636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99088d07-9299-4485-a872-9f5f3c488e3d CLINVAR:2115774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7a91bd3-84dc-413f-b67a-1686f30d53bd CLINVAR:2115774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf01613-bf29-46a8-8c6e-4e12e490bf79 CLINVAR:846424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8173e30-3d81-4487-8754-ca936c696f4d CLINVAR:846424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa9aac51-cb2b-467b-8501-87c7c0253001 CLINVAR:1365004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d4c11ce-734d-486b-b406-84ee33d6cd6d CLINVAR:1365004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45649fa-0cae-42d0-a042-e933aac00239 CLINVAR:937279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a4b4f7a-3679-4aed-acc3-ea93d5bef2fc CLINVAR:937279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7836c48-3bf0-4f17-8f90-a5691583440a CLINVAR:1485224 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f29c5ddd-b7fb-492c-9ad2-49681ea711c3 CLINVAR:1485224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da230744-530d-411e-95fd-2157e91d8cdd CLINVAR:1018068 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe7807f3-700c-4580-866c-e5c9cac609a1 CLINVAR:1018068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e21cfdf7-f0e6-4a5c-b02f-b8ec199cf83e CLINVAR:1368262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25fd0431-6f57-4a2b-9a8d-edea0088cc4e CLINVAR:1368262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19dd5b37-71c4-4b8a-8758-7edcce0bc9e3 CLINVAR:409811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e776c3b-4edc-4b40-8891-a8e6e048d258 CLINVAR:409811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9595d6e-5c7d-4049-b9e7-8299fdfb785f CLINVAR:1483319 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9559d4d-77ab-4acb-9ecb-bab10e93d36d CLINVAR:1483319 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebae8c6c-7eae-4b8e-9ccd-d448be8eaf10 CLINVAR:1457387 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01afcd8c-0dbc-400c-8d56-674c7bc15317 CLINVAR:1457387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d64638-a982-43f5-8944-95b08240c2bd CLINVAR:409812 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a5e526a-76a4-4246-bc45-e8f4697c1932 CLINVAR:409812 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f8953ed-242e-48c2-94ee-a93610196cfa CLINVAR:1509019 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 738f5695-804d-4edf-8b07-0db2852436b5 CLINVAR:1509019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1058ea2-7635-4486-84b1-4c95ea6b5097 CLINVAR:2041194 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe11d720-2904-4236-b548-e82939b66fd0 CLINVAR:2041194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ccbd3f6-3775-4b1c-981b-1d6793c1ba4c CLINVAR:858173 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 289ca795-c370-439d-a454-6d3f3f242f9c CLINVAR:858173 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49b21af-01bf-42d4-80bd-f59d48d030b0 CLINVAR:1949129 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01547dc4-6d26-44ad-8c92-4b8eea7b9e4f CLINVAR:1949129 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37dcf072-ed78-4538-8f32-2a8683729f8c CLINVAR:1003366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 005cae2d-4199-462e-977e-59fe03662317 CLINVAR:1003366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26cf5942-f2b5-4fa5-b4b6-c8a195a8ea69 CLINVAR:1514219 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c43d7f6-95be-4bda-9ac5-c7fe40e6b04a CLINVAR:1514219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5811d8d4-f2af-47fd-af14-1f12489805c7 CLINVAR:1512969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0899b0b-2fdf-4dd1-87cb-cf61f9df82c8 CLINVAR:1512969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0734f05d-253c-44bb-b8e7-fa682d33fe62 CLINVAR:2003504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7dd7848-2c70-4117-8efd-9ac57af2f7c3 CLINVAR:2003504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 984d448e-08a5-483d-ac70-4387bf9da102 CLINVAR:1001532 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b45f1e9a-fe31-45fc-8aeb-d5c1c382eff8 CLINVAR:1001532 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3403a9a-cf38-4985-bc94-34670e1f5a21 CLINVAR:1507291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56f31f76-7df5-4450-8bc7-aab77d4565d7 CLINVAR:1507291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4023456-e7e5-40ad-b317-7dc89f519db1 CLINVAR:1058050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58d25be0-f1d0-4c4e-8598-add5749fe8c1 CLINVAR:1058050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9a868ab-5b06-4a8a-a949-3352fc7957bc CLINVAR:2465691 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f8e32af-cbd3-4163-bf03-53abb090237e CLINVAR:2465691 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbd9359e-7d13-4297-aef5-9c4dfbd6100f CLINVAR:967043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2d3b6db-d6e3-44d2-bdc8-786a7312ca01 CLINVAR:967043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d72cafb1-e356-47ee-ab7c-6b4ae727c3e5 CLINVAR:1018620 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ace7744-ef54-43b0-befa-65db6ccea734 CLINVAR:1018620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635fcf63-3e81-4da1-aab7-cf58f6bcc36e CLINVAR:464012 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1346face-243e-4910-82a2-50f55bfdd3f0 CLINVAR:464012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5985352f-f0b7-4fa3-a6cd-b050a6b794ce CLINVAR:1392067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0be7bbf1-596a-419a-92ca-b75966b47bdb CLINVAR:1392067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04d06986-7a5d-4633-99e4-2dffe1f87409 CLINVAR:966213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 681cf35a-bc7c-4d17-814c-602aae6adee0 CLINVAR:966213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f5d91ad-7345-47cc-a33f-f1d3e003d8db CLINVAR:1351602 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1278889d-82a3-42d1-aa93-2ce1c947d875 CLINVAR:1351602 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3788fc3-f32a-4584-b2e2-af60cf9d7c7a CLINVAR:851830 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c4162eb-ab9e-4485-85bb-733a72812330 CLINVAR:851830 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f264478-af38-47a7-96fa-23a06fc86911 CLINVAR:1042743 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9d0029e-981d-45a5-bcaa-2d0d6909fa79 CLINVAR:1042743 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dc7a264-0f47-48ff-81d5-8ec2b7547203 CLINVAR:1354221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df249961-99e9-4099-9228-b74d14a97a90 CLINVAR:1354221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85686789-c85e-4b73-b1c3-016d9b45dcfe CLINVAR:839054 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b52f4f7c-cb0a-47d7-984a-771deed0b720 CLINVAR:839054 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d151bbb-42e7-4d94-8aa6-92a19494fff2 CLINVAR:532654 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3db1cb83-af60-446a-bd56-a84a273fbd37 CLINVAR:532654 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e16c300-9912-42aa-9cc8-e9460e99f3aa CLINVAR:532655 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4d085e6-9005-4028-8749-aa009a9a6045 CLINVAR:532655 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f025489-e12f-4d5f-876d-ed48279b17a2 CLINVAR:1350529 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d11c98fd-d003-467a-8815-09fc590ecdd4 CLINVAR:1350529 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ee72f0-76b1-48af-bec1-a9ec36a4da03 CLINVAR:581279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c6c87f7-2304-4bd7-8022-015e24e65fd3 CLINVAR:581279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e1dc5a1-b12d-4562-9e34-5a6baa2a1bd3 CLINVAR:1421576 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c342e1c5-0756-4ab3-b2fb-65688e93e637 CLINVAR:1421576 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001faeee-67d4-4af4-9c8d-860d828e60df CLINVAR:1415388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d09cbc89-f8b3-438e-87d2-0a6939062a20 CLINVAR:1415388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c3c9988-5a68-4c84-9f5a-95514ce93924 CLINVAR:1010346 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94ba9d23-d394-4b5c-9c77-5445bb953a80 CLINVAR:1010346 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb9f37b-7dfe-4368-9f89-6242eb1d89f1 CLINVAR:1000965 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fcbcb3a-9b75-4638-bb40-0ffd45f6ee1c CLINVAR:1000965 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac62472-9595-46da-a5cb-ec9753f4f468 CLINVAR:1404038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dbbe56c-12d4-4c86-88cf-7508fd6f81d4 CLINVAR:1404038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen add4596f-e5af-4e68-bab4-569b0db3b45a CLINVAR:1436178 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6eb777d1-65dd-4222-a476-101ceccb50c9 CLINVAR:1436178 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0e3146-7e46-41f4-ae57-7f185266cf91 CAID:CA383506026 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc9fbfbf-0fb5-47e2-aa25-c0b4f37296e6 CAID:CA383506026 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86b5ecc9-bd8b-4db1-ac2b-8a34c9794e44 CLINVAR:586022 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c5680b5-8a59-4a94-86c0-941d0077c4ce CLINVAR:586022 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f260e72-64eb-4826-bdec-c98221f01193 CLINVAR:560681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f49b59a4-da5e-4566-9540-55810a982746 CLINVAR:560681 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc2731ee-d8c1-4cbb-b802-6b9a8e0a053c CLINVAR:635781 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8aa6d74-bea0-4d8b-ae02-dff0e4d35878 CLINVAR:635781 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 577c4e28-8744-46a5-afe4-baccf0e821c0 CLINVAR:635782 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28099962-f3fa-4dee-9252-a7bfbe6596f7 CLINVAR:635782 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58cf1feb-8031-4f78-a7c6-84132aa7bd6f CLINVAR:254648 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59fa3b7e-488b-43a7-b67b-7a1263b4f2e1 CLINVAR:254648 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f2df74-fd80-4ec4-8cc0-80bfbf57d4ff CLINVAR:427633 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e5af55c-fd63-4946-80f4-9955128fd9e4 CLINVAR:427633 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c35dde32-cb24-4b7a-b890-8a08776fe0c3 CLINVAR:393444 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f4425a3-1617-4b35-83c1-c5b774365ca0 CLINVAR:393444 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdc1ff48-6d64-426d-a475-d534568f7ac6 CLINVAR:549555 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9cadc94-6105-4a5b-9127-a3928358f902 CLINVAR:549555 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33bfd14a-6958-4b7f-8362-9944eec43ae2 CLINVAR:36360 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a86557e1-b20e-45a3-a926-a73084b66ee0 CLINVAR:36360 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90581ca7-f856-4a26-9c01-5a19edca430b CAID:CA2497028946 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a25f2a9-5184-4852-8201-fb8f53426acf CAID:CA2497028946 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87604fd-2907-48fe-9655-199ca6f6eb33 CLINVAR:1966519 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c984f30e-2233-4cd3-b5ed-16397e9b0d7c CLINVAR:1966519 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f44e73b5-41a7-4681-b4bc-e23b385cc2e1 CLINVAR:2780381 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd0eddd8-deb8-4f8b-9da5-cd28b1677e35 CLINVAR:2780381 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea0e868-57f9-41d1-b9f1-9d202b5339fd CLINVAR:2088121 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe1cf6d9-881b-4fbb-9a22-5f233b5c26f0 CLINVAR:2088121 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2939ac78-8436-491a-8413-316c434010b6 CLINVAR:3018366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e62aad0-cb02-4f0b-8fa4-d0ed82ed6c20 CLINVAR:3018366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebaea869-bd21-459a-83d1-98ce4d2f8931 CLINVAR:2678493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33865e5a-726c-4458-aad1-84c24a8158ab CLINVAR:2678493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d923759-7dee-47c9-ab3f-d78558ea5a6e CLINVAR:2856448 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 349797a0-a39d-41a2-8667-d588269e130b CLINVAR:2856448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa59b06-1a23-4d60-a771-9a991390934a CLINVAR:2678496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97a0faa0-f247-461c-91ca-baa3e3e48a50 CLINVAR:2678496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0c7f42-9131-4fa9-97df-f48394b29ac5 CLINVAR:2713530 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e6c2d7e-ff4f-437b-9e4b-6d5af4ead83a CLINVAR:2713530 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e0a4ea4-e8b6-4073-9ae4-9751a5116471 CLINVAR:2697441 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a274b5de-94ac-4152-9024-dbc2b8b5ab2f CLINVAR:2697441 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48f307d9-ca3a-4e04-b2f5-c111a386eed5 CLINVAR:1361711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36638167-d3e7-41cd-88de-bb89721ca779 CLINVAR:1361711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78fced7a-6021-4ebe-a8c6-ad2e27a0e4ee CLINVAR:1610586 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef709b6f-ff3a-42ed-9eb4-c68d297c2f75 CLINVAR:1610586 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c645b7f-1b34-4bc8-8aad-7036e7b383b8 CLINVAR:569757 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bf7c37f-2e66-4851-9c93-1e1a9fadacf7 CLINVAR:569757 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 175e2b7c-5653-4563-ad8b-22bb0f3fbdaa CLINVAR:1428742 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de145fa3-3d54-4ca2-bd4e-bc302e59f15f CLINVAR:1428742 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88323f07-4eb4-49ee-9a6a-7898aeceb2c1 CLINVAR:864259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1d8c965-6dfd-4e43-95ae-1cb768c9bc83 CLINVAR:864259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 184af4ec-54ed-4f45-909b-b0af293ca1c6 CLINVAR:1488888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d04e670-77bb-4eaf-bf81-f9db4aa3a5b4 CLINVAR:1488888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c6bee77-71c4-438a-8059-050edaa8d160 CLINVAR:1364020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e84696d5-66fa-443d-884f-523185aea80e CLINVAR:1364020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4852f632-5c19-4e8a-94bd-054f52f397cb CLINVAR:409815 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cacb342-4c27-4eaa-93ec-b60089d45433 CLINVAR:409815 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ad5075a-b1c8-4a6c-b0b6-e89e92152f5b CLINVAR:627343 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a577c5f5-8bf3-46e1-862d-347b9802cabf CLINVAR:627343 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73845157-b1b3-47fe-b6f1-d372d8f638d0 CLINVAR:2893433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cf8c947-c7e3-41a8-880f-57c14bb1aa62 CLINVAR:2893433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5354857-a46d-448a-a57e-0c2f06a36a3a CLINVAR:2694690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17e01dd5-cc9e-4ede-ba80-b0a2fc7bf53a CLINVAR:2694690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f89d682-5317-4bd6-9138-fd172d27eaf7 CLINVAR:2815871 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb6f7235-fb78-4081-b32f-f9340a32e68f CLINVAR:2815871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3abc747-2258-472b-b745-4cdf410f3d1a CLINVAR:1356920 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bb60967-b51e-45d4-9803-946d805aa58e CLINVAR:1356920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54652b03-edee-4a61-8216-0607e3c4d98f CLINVAR:2752186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c442d9c3-868e-4597-8a35-c619649e37f0 CLINVAR:2752186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 255cc322-5e69-487d-915d-1cf1fcef7ce1 CLINVAR:1057196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c14770e-7ad5-45ce-9718-2b8e96f16122 CLINVAR:1057196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa563a9-7bc7-4789-b634-7cdf336b3c6e CLINVAR:1522045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3c06e21-a7f3-4d03-981f-690e959c9adb CLINVAR:1522045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a83c2bca-33dd-473e-ba52-df60848fc5af CLINVAR:848735 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 474880ba-e266-4dab-a5ad-f2fa3a826d2a CLINVAR:848735 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e4c40b-ffdf-49bd-a9ab-1f717b367c67 CLINVAR:2739759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e80c48d4-f9de-4154-9ebb-b211893ff3d6 CLINVAR:2739759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ef9442-870b-4886-b52b-2e140ac0f201 CLINVAR:339803 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 835daeb5-8b3b-46e8-85c0-e8c64f7dee14 CLINVAR:339803 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4a8d726-0c0b-4384-857e-d68e81097f55 CLINVAR:3023071 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a30acb7c-c52e-42eb-b42e-891014e7800d CLINVAR:3023071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ebf1509-9aaa-4716-ae11-d7c0a234a4b0 CLINVAR:2995353 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61d99dc8-d04d-44e6-9806-89694915a29c CLINVAR:2995353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0247c002-2d24-4344-997a-a44c4bd3d187 CLINVAR:1718293 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbd977f2-8f46-4bbb-912d-8494305ead93 CLINVAR:1718293 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fec01fe0-9c77-4abe-90c1-7ebaf9d8cb2b CLINVAR:860793 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a1ba0fb-f79b-4f12-896c-e14c128a6dc0 CLINVAR:860793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de529c94-0d56-4808-abeb-1cfe20210047 CLINVAR:1420902 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 365f3f8e-7ef8-4df3-92ad-ef987126e6b5 CLINVAR:1420902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c23365d3-4c65-4118-8cc4-ca338e80c5c7 CLINVAR:1046278 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09c70539-01f6-4aa3-a490-4ac6b1797280 CLINVAR:1046278 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4aca2b-877d-45f5-b72a-8768f4b28231 CLINVAR:860545 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a734b13a-23e1-4c76-9caf-dc886c33572c CLINVAR:860545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33e7a917-c75c-41b8-a73e-868929868fcc CLINVAR:963047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f9520a4-5a55-48a2-a258-29d78f658641 CLINVAR:963047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 142ecbb8-149c-49cd-86eb-0ddd6721fbaa CLINVAR:2879675 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5437ce3-d6d2-42fd-a28d-73eec21f8619 CLINVAR:2879675 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a682c52f-bdce-404f-95bf-a7df1313c257 CLINVAR:2741843 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da000b42-fae1-439b-9c2b-7f982c1be689 CLINVAR:2741843 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5cee75d-67f4-4f19-b16e-0a2d607e5e31 CLINVAR:2749609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f74d5830-9d57-47fe-b53a-e9a59b47b789 CLINVAR:2749609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de1f61ca-4435-464a-8759-e70b02cfe309 CLINVAR:2864169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23e9b039-b89a-429e-b230-3382e7d565d8 CLINVAR:2864169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa56a81-6b37-43f4-bbb6-2e11614372d9 CLINVAR:10199 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f010a82-8961-4566-8dbe-39948ca3fcb9 CLINVAR:10199 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4b40a5c-620c-4879-9e90-11801a380b7a CAID:CA414892027 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70e4c97e-f819-4cf6-af4e-72d4372e501d CAID:CA414892027 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18855bf6-f7fe-4b46-b123-ff78ebd8f16a CLINVAR:209092 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5cfce0b-abb4-4d8e-8ea4-bfdb56d5495b CLINVAR:209092 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cce0b95-4d5b-4557-9995-85638cb3d066 CLINVAR:373121 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44df31ac-704b-4288-b8db-2b9394f5d6c1 CLINVAR:373121 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df7a51ef-5c8d-4af5-941a-858e96a96644 CLINVAR:7280 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83cf1f40-64b8-464a-a5ad-cc3663ad46f0 CLINVAR:7280 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e43d173-fb4a-4d0e-8863-ab91da6ff793 CLINVAR:449326 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c29d9b85-b98f-44c7-b3b7-ba8c8a1c6699 CLINVAR:449326 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 964ff8ea-8e21-44a4-a1f8-1f2a7995736c CLINVAR:931135 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a226827-3ac9-4ed3-9c6b-50247a759037 CLINVAR:931135 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd84bc87-0da6-428d-827a-44db1ad8255f CLINVAR:7281 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d624adf5-498c-4002-a235-b7826650bf73 CLINVAR:7281 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b6e1360-41c1-460d-b6fc-1b0e7d284d43 CLINVAR:7285 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61ec457e-b417-45f2-a08a-5f2ed8df19fc CLINVAR:7285 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ebdcea9-f798-43d6-989c-0b5c0ad72967 CLINVAR:7279 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b9aa72a-65b3-4db7-b209-ee0faf6e8eca CLINVAR:7279 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f73c8ab-7cbe-467e-8d41-0751d664c1eb CLINVAR:158984 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21cd0fe4-430d-4d55-8c0b-9ea131172e8f CLINVAR:158984 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd2a2bab-d2b8-48eb-b8fe-fcd749989727 CLINVAR:158987 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c133054-87cc-4ec2-98ab-68da3a983720 CLINVAR:158987 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d817a93-a5d5-48fa-a9b4-876d21f8c218 CLINVAR:11055 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a66c24f8-0359-43e4-8a5d-5832ab4eea61 CLINVAR:11055 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ecfc7cd-c7c6-4133-8c9d-fbeda1ad395d CLINVAR:11060 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7423914b-9431-4eda-959e-5bf924a8e56e CLINVAR:11060 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625843b1-7370-412a-af33-bdb4a6649a0e CLINVAR:11057 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bc8f8ff-8d83-414e-9434-ff238b10472c CLINVAR:11057 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b15840d-0b61-44e2-ba2b-dbdb12e904ee CLINVAR:158926 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dadf13e-a7ce-4377-beb6-d7120b978718 CLINVAR:158926 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b26b38ac-072b-4f0e-9908-93102cf8c27f CLINVAR:167307 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0804307-411a-4498-abbb-563e89712c8d CLINVAR:167307 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffbd1b1f-6d49-4e20-bb18-5a517e9ada63 CLINVAR:930768 biolink:causes MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89d232e0-f8e4-40d8-ac98-7aef1423ba38 CLINVAR:930768 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34432b7a-912b-4ff1-ada5-e0ba609bd524 CLINVAR:158953 biolink:associated_with_increased_likelihood_of MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd490ea1-229b-4699-98ab-8c4dc809e850 CLINVAR:158953 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fafdea90-a52f-41bd-a904-001591e833b3 CLINVAR:552042 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3438cbcb-0063-41cc-9eb0-0602b7a74ac1 CLINVAR:552042 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a027032a-2755-4a51-8db1-5b73a077e169 CLINVAR:553493 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a733ab72-c453-4204-837e-d1059cb41aa0 CLINVAR:553493 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a25989a-df56-4d7f-bf7e-829ba8f2c074 CLINVAR:496132 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eda253f1-bfa2-458b-a376-f697c713e80d CLINVAR:496132 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 058126c1-5074-4a5a-8b2f-03a7cf51303a CLINVAR:506284 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00da52fc-53e4-4481-adb5-e7094bea5395 CLINVAR:506284 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9616381-6aea-44e1-813b-753792ed7688 CLINVAR:552018 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aadd0579-f9b5-41a5-80f2-1371a554a8f3 CLINVAR:552018 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe4db625-0274-4d39-bbd3-be7842c2b5cb CLINVAR:4027 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9ca4f62-00ed-4718-8a79-d2cdf19dce74 CLINVAR:4027 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d439eeae-85b3-4711-9a2a-2ea2b470543c CLINVAR:2710027 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdfba6f5-52da-4967-97eb-32d3a988228b CLINVAR:2710027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef566f37-6c28-43c6-bf8e-8b7b07a3ac02 CLINVAR:1253809 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11555bf8-91ad-4cb0-abc7-af6ca42c7c9a CLINVAR:1253809 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47460ff4-7c74-40d0-b8cb-4e518b2c9a95 CLINVAR:642707 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e468446f-db6a-4b17-bcc0-10d53ec072df CLINVAR:642707 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 947c300b-73cd-416a-83c3-b6406352b0eb CLINVAR:12996 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a12175d4-c1f2-4f87-96e3-41615a24be8a CLINVAR:12996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ae1921-7c9f-4c3c-91b3-72dfc568d985 CLINVAR:438314 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 166f4dee-efdf-41db-8966-a7d3a8fc31f7 CLINVAR:438314 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb809823-f071-4f44-a949-acce6dab5c99 CLINVAR:203590 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28ad6d80-763b-4d25-94b1-ec7f07654863 CLINVAR:203590 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581b374d-159a-4339-8e1a-95db32923dbc CLINVAR:657040 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c11ae67-0f2c-4e2b-b25f-81b027e52ac7 CLINVAR:657040 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7b91888-5f67-44fd-975b-f132e421f1a0 CLINVAR:440637 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df656d10-93d7-4f8b-9f20-74bd3ea5650b CLINVAR:440637 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6944e54-7083-4e0c-9a50-078c56b83a0f CLINVAR:926526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10e0abe0-7fd8-41ed-888e-8293a24f892f CLINVAR:926526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f449811-83e8-483a-8404-43111f07e294 CLINVAR:251817 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef10ff9f-7e2c-4da4-a566-4b96668e574e CLINVAR:251817 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0621ba6d-196f-486a-810a-2138811b96bf CLINVAR:251766 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3abc3c0-ca09-43c6-a2d2-18fab39ea4dc CLINVAR:251766 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 555b8217-ba60-41a0-9441-cd292a2f08b5 CLINVAR:251765 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b172f501-8e92-43cc-865d-95002ad586cf CLINVAR:251765 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a1ae036-3c81-4dba-aa24-9893bf660bfc CLINVAR:936786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89f4c76b-8352-4e78-8cf7-9ea5ec2c96f5 CLINVAR:936786 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9749736-6ebe-4b11-bde8-d12868a842c7 CLINVAR:561681 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08a0509d-e758-43b1-8ba7-e68aa80bd1ee CLINVAR:561681 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 090f0eb3-4582-4da0-ba2a-c16d0c453dc7 CLINVAR:560679 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb20f400-2798-42f4-9a65-923b3c1f62f3 CLINVAR:560679 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b5ec282-7837-4a99-9076-02a3e4d97b70 CLINVAR:451330 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0087a751-e627-4814-945a-511c90584b96 CLINVAR:451330 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7492a71c-3400-4aab-8b19-2719ad0cd3f0 CLINVAR:12982 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30f6ab13-4543-45e8-aded-47a8baf3ff2f CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9c5722-bc9b-4402-a40a-90e725cbfeb5 CLINVAR:582126 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1100f3d0-e0fe-4d66-bf56-75d05600fe1b CLINVAR:582126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b27d484-2ff3-4683-bc0a-6744e19a2710 CLINVAR:201153 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e20bf76e-ce5a-4cb0-9821-545f039be2e9 CLINVAR:201153 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a55e6a1f-8a30-4c0f-a931-ec058b9269d0 CLINVAR:1610571 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5de49308-bf9c-4f47-bef4-83b7aa8a0f8a CLINVAR:1610571 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9b0d6b-b002-4dcc-84c3-ceaed06fbee1 CLINVAR:1576061 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58060440-714d-46cd-9ef2-7c41a51904ca CLINVAR:1576061 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ada41ea-db15-4efe-ae1f-5c03a547dfc5 CLINVAR:2295171 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2263962-e394-48ab-bee0-03cb5b9ed5bf CLINVAR:2295171 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9dd6fa8-bcf5-45d5-bd63-95bdb805118c CLINVAR:18012 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8df056e4-8979-4880-b089-82f7a4990991 CLINVAR:18012 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b995230f-2632-4eb5-b81d-deefba064179 CLINVAR:226353 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd296749-5000-40c0-9945-0caebf0d8c25 CLINVAR:226353 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3e84680-8383-49ef-a8c8-bf16bc40462c CLINVAR:328053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbe5204d-48c9-44c4-802b-a1b5588b5f16 CLINVAR:328053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3f316ee-f257-4f90-a1a6-097315df46a2 CLINVAR:2057364 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a880f74-80af-4dc8-ab7d-db34dd5db9de CLINVAR:2057364 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 665177b3-3872-4f17-8a6f-729327c66e54 CLINVAR:251886 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0876e16a-db84-4a6d-9d81-c1e96da13b51 CLINVAR:251886 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33f8223e-5c7b-43dc-bb3d-4d31f75eb7d4 CLINVAR:161285 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14bce1da-65ae-404d-8f07-4394590b81e0 CLINVAR:161285 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bfe924e-78b0-445f-9dcb-dcd9832e4f57 CLINVAR:251864 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd8d7285-b2b0-4f18-8060-ceb503fb492e CLINVAR:251864 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c56d5e12-afe6-4621-81cf-9cb933318324 CLINVAR:251865 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8749558-26f4-43da-9cf2-d1c05cd75f6f CLINVAR:251865 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84068df5-8ea1-4447-a281-3e38014741b1 CLINVAR:251767 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd826bc1-87a0-4c2a-9c91-c9b5895182f7 CLINVAR:251767 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28159c91-8ab2-4491-a547-54743d1887d0 CLINVAR:3694 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 065ffc09-a09f-4506-ac3a-901437eb3ca1 CLINVAR:3694 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d1e252-b873-4cae-b00f-39027701cfef CLINVAR:440548 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab6b53d5-5a00-4efd-b72d-9f88c8e2e6d6 CLINVAR:440548 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2b51fe6-254c-4421-8a82-296181ae2a0f CLINVAR:252308 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53ba28cb-7a8a-4af5-96f9-abe667b753be CLINVAR:252308 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee2923e-95c8-4949-94a7-de096cd19b75 CLINVAR:993226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7415b355-b134-496e-935d-3d2958621239 CLINVAR:993226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db837e5a-65ab-48b4-bebc-5bb7d9c491ae CLINVAR:251900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56c83d15-b6b1-4f7b-87a0-c29a27cf77a1 CLINVAR:251900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d24d02-0b49-42cb-b042-8304eac6678c CLINVAR:3696 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4786e2ff-7f66-4045-9131-401a3223d86b CLINVAR:3696 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77285323-4d65-4af8-bf00-5c1d611198c6 CLINVAR:251731 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c92bd992-c861-498e-972a-cf7ed2a708f7 CLINVAR:251731 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1052f94c-4cff-4d74-b617-cd24b2dd3c35 CLINVAR:251870 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d64df07-4c3a-4c86-89ad-af3357ea3a18 CLINVAR:251870 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ebaede9-7ddd-420d-9532-eccf687cb8d4 CLINVAR:919898 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b1da103-3801-40f3-a989-1a2e7f1a5244 CLINVAR:919898 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a2afef8-7cfc-451f-b356-59f7e5d395fb CLINVAR:251130 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3b7d52c-7882-48d2-ad36-cbf34ab737f7 CLINVAR:251130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0973dcd-2b7a-4f17-bd08-c691d9d1f5d2 CLINVAR:161278 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dab6f44-bc6a-40dd-8bb7-77eb2ad338c5 CLINVAR:161278 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfafa16e-fe3f-48a4-b31f-56951e90b0e7 CLINVAR:1509293 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb2d776a-7cfe-4c6f-9e42-31332e88e205 CLINVAR:1509293 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf64b9b-1c98-4865-86da-594698d3d9f5 CLINVAR:251949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd87e565-c480-4eb8-8c9a-fb0289558b1c CLINVAR:251949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a30b0fc2-a618-48a7-903b-ee5343747dee CLINVAR:251147 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fb183f1-d5eb-488d-84f3-80820eb1a939 CLINVAR:251147 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a89fd06-3cda-4a83-9bf3-445759980a94 CLINVAR:1000222 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a7ebe69-7787-4d0e-bbbe-6aa1d9da8a49 CLINVAR:1000222 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 364c323e-ac2c-4ff7-8cc7-281cfdb84b21 CLINVAR:220185 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c3b528f-21e9-441b-8388-faf33cb556e3 CLINVAR:220185 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d24669-30e3-4302-ae62-ca86cdeb8731 CLINVAR:233523 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f2dc244-3e8a-423c-a6a6-f48b60d5f9c5 CLINVAR:233523 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211d4e5b-536e-435b-a9e7-11393b0383bf CLINVAR:220203 biolink:genetically_associated_with MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d429b989-1056-4a2d-9552-636b3a004b7e CLINVAR:220203 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed98e0f4-f963-4779-a3f4-12340c89a2fe CLINVAR:449776 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b149967-0172-4aa8-a3fa-c55c2e5bfd32 CLINVAR:449776 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ff4167a-c52d-4051-b81e-a70646a9572d CLINVAR:619511 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 723c6501-1f43-4468-8baa-a9456c696d49 CLINVAR:619511 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2684e986-4ed7-426f-8daf-9fd61571b5af CLINVAR:90178 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af14d621-7677-4050-8e7e-e70809e559ce CLINVAR:90178 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac34f817-6eff-45ec-a997-8a41b3e9f421 CLINVAR:90011 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc9efba3-eada-4c1b-9d09-be66e0a48f80 CLINVAR:90011 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cffcf25c-30a2-47ad-a239-1573ed9f246d CLINVAR:561172 biolink:causes MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3342b2e6-0035-4e09-b409-5863d7f79c21 CLINVAR:561172 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e40c5bf1-20bc-470f-96ee-4448783ffd14 CLINVAR:89816 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb18d7e5-c296-4f30-b184-c99e4645416e CLINVAR:89816 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b20164f-d8ce-4dfe-9bef-db4e30ab9921 CLINVAR:619558 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4700ebdf-f49a-4960-8a0c-3943d6f0fd5e CLINVAR:619558 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c11b964-f88f-481f-aeef-e96d06d3e5e6 CLINVAR:1067956 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ca4bc40-3ec3-4db0-bd88-eab78b0e2234 CLINVAR:1067956 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78dbb4de-8d7b-45e0-9d39-63041ace6423 CLINVAR:90503 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c857a0a8-0fec-45ab-a456-148d2de82f6b CLINVAR:90503 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf75a0c6-d479-425f-9213-96a0900feb26 CLINVAR:142708 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72fbe9ce-62b0-42f8-a2ec-a69825b70e8f CLINVAR:142708 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3da5948-ef4c-4abe-9be7-d0354df5a685 CLINVAR:90880 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ee6d4ae-eab1-4dc2-af50-7c648a0490aa CLINVAR:90880 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 977d6e3b-2d72-4967-b41a-f575dc3424ec CLINVAR:91246 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49ee71f0-6172-46ad-8b54-7f32c77db73f CLINVAR:91246 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1baa8b3a-cfda-40ba-8e85-783801a3b50a CLINVAR:246389 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d4f5c4d-0743-4db8-8004-025791948210 CLINVAR:246389 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 599ee526-e71a-4188-a145-18ed533f123a CLINVAR:89573 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a442da11-496f-410d-9cd2-51b5ce6a415f CLINVAR:89573 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a58933-98b5-4ba7-8421-0d96f3cd24f3 CLINVAR:455128 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3529b115-1522-49fe-831c-22a1a9fe13bc CLINVAR:455128 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bf314a5-68a5-44c4-a5ea-bb7007de59a1 CLINVAR:140774 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b72a67bc-a51f-4fd8-b1f4-33314160924a CLINVAR:140774 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ab6ec5-3b28-4194-bca6-711d40402f29 CLINVAR:216294 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2df28bc8-1444-4650-a6e7-cf2c83ef62af CLINVAR:216294 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e4f9be5-3f02-48a2-9f23-d40f1dff1bf0 CLINVAR:162508 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ce3a747-467b-4ddf-a8b8-1d638ea0738c CLINVAR:162508 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc202d8c-af66-43d4-a2b1-8d62d7a9b2ce CLINVAR:91361 biolink:genetically_associated_with MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc95a0a5-8d82-4cad-9e3b-69c8604b5e0f CLINVAR:91361 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81033f95-df34-4e2e-a316-9893f71ff4ea CLINVAR:91313 biolink:genetically_associated_with MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 122226e9-9717-44da-9b5b-4d8d6ab80f32 CLINVAR:91313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0a904c2-9598-4aba-b9de-bfd2855d684a CLINVAR:439243 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77a24309-0908-4fde-bc8c-69707af898ca CLINVAR:439243 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4144b20a-a3e7-48c8-9938-bbd1402d8167 CLINVAR:480313 biolink:causes MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22145a48-b293-47f7-ad97-3d15d22546dc CLINVAR:480313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c994176e-1fec-4908-85ec-0d498c500baa CLINVAR:2673296 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cd3d4f3-dff4-4355-90bd-14e6b7a66ce7 CLINVAR:2673296 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d90749eb-693f-4538-9411-82142c1fd250 CLINVAR:2673426 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 281a95a0-fd54-4d12-911d-0c432e872c13 CLINVAR:2673426 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8f46fa2-30c8-4d0f-b4fd-28a214f97763 CLINVAR:811810 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34a55908-bc2e-46b8-bfb4-55be7253d43c CLINVAR:811810 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7e96ec-f04a-449a-9419-ecafb300dbdc CLINVAR:627180 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 956520ab-644d-46c6-9c4f-21d7a476fb3c CLINVAR:627180 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0590d024-2cd7-4c98-9b86-40d82aab4f98 CAID:CA2580612120 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bd400fe-78da-4448-8596-771fab493d83 CAID:CA2580612120 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb50781-616e-4643-9412-01b293c7f545 CLINVAR:2084589 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00a423a3-7f1d-4120-ac1e-0e1e860c0f5a CLINVAR:2084589 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ae76be4-632e-43c3-a7f3-b08d718daf66 CLINVAR:972755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 834a7ea7-1a07-405c-bd09-c52cf6755338 CLINVAR:972755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4559d20-37a7-41c3-83c0-45ea8ee7eb77 CAID:CA386965420 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5daa33e2-2bd3-4518-b3ad-2699df786182 CAID:CA386965420 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31a63b6-86bd-4fff-9cac-6e159d2d99d6 CAID:CA386965487 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f25d17fd-9d07-43e4-947a-0477ee4a72d9 CAID:CA386965487 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b74ce4d-36e8-453c-81ce-b0c6335a39c7 CAID:CA386965729 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 660a3770-73a0-4258-a8d3-8604097ace49 CAID:CA386965729 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 786ee66d-c9a1-4de9-8d17-2852d7358410 CAID:CA386966305 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94f3ec40-144c-4e75-835c-6a688ed7d993 CAID:CA386966305 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a9e048-c458-49ec-9a6d-3c625f73f832 CAID:CA386966297 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85553db3-1627-4766-8e04-52a28b3efa98 CAID:CA386966297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37cc86e9-8a99-4fa4-a3bd-6891f04c25bf CLINVAR:1304284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50ba6602-d6cf-43be-8a41-d4b9788201ab CLINVAR:1304284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 856c1d61-e086-4272-b174-d320ded8ad97 CAID:CA399806749 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45c5db29-d97c-43f8-97e6-172928ed7a1c CAID:CA399806749 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e13c4ff-9273-4a26-880b-b83be06dc5fd CLINVAR:3391415 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51caaca6-a5e4-4c46-9774-da1d8bbc338c CLINVAR:3391415 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b29dfe4-7704-453e-9fb0-7c24d3afd129 CAID:CA399805683 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57e3d860-0a82-4af8-8ba6-2baa5b647b22 CAID:CA399805683 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0631cd40-9d3b-41fb-beec-759b47ff13d6 CLINVAR:91386 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5f08c73-f1bd-4792-9012-1f2a4fe7b535 CLINVAR:91386 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08cfbad7-20af-4135-aefb-fee9edce319f CLINVAR:872112 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60a451b4-bc3a-49f5-9368-0a803f377990 CLINVAR:872112 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321db9db-cd50-4521-bc45-29fb0488de1a CLINVAR:156623 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bd0d3f4-a902-4afd-868d-24cb4457c15e CLINVAR:156623 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f83186-3bc2-4c72-99f4-68385c3981f2 CAID:CA2849481719 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84aeaa1f-4fa9-4c4e-bbd3-f50d31d78d2d CAID:CA2849481719 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f06ce202-5522-43cf-9bba-e7affff81eea CAID:CA386966185 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15b7bd42-44ec-4353-8ca2-3b0774ede589 CAID:CA386966185 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 837b3114-4860-45d2-9bce-c47f7f8342e4 CAID:CA386960147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c2842de-e7db-40f0-8ba4-36f6d52a92d0 CAID:CA386960147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe77555-c7ac-448c-8587-8fb26d2d3cc6 CAID:CA409105364 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen faaac947-7bbb-40bf-ba17-6617dcf916a2 CAID:CA409105364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 082d6493-e0c5-45fc-8d5b-2663e8e09582 CAID:CA409108770 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41e49184-e4d2-4f32-8294-c70cc7eed6b9 CAID:CA409108770 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f756149-b99f-4867-ab75-dd6d9610dac0 CAID:CA409108445 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37693097-9202-4427-b2b6-9ecbff7e3119 CAID:CA409108445 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bebe40d3-0d3e-439f-af31-1fce4d3a4f1d CAID:CA386960129 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a843acaf-8f22-4ed6-a71f-aa35bad217b6 CAID:CA386960129 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b7a755-e42e-49de-afe4-f8696bfba647 CAID:CA386960156 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08ea45e0-5acf-4821-a05a-fdb37a238323 CAID:CA386960156 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0bfcbb8-330c-4728-98c4-a4f92da24068 CLINVAR:387822 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac97f464-539f-4ada-891f-2be9b2288c32 CLINVAR:387822 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6370cd8-b7f4-450a-bc29-ded67cbc2a9d CLINVAR:853965 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04f7e492-07e5-4d74-9e21-a18d9ecbe56f CLINVAR:853965 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 834934d8-f98d-4672-9f3f-7a6fc847f2ee CLINVAR:205610 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b4eb07d-17f5-4d17-b0b8-515febfdfd63 CLINVAR:205610 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5fbabd-1dbc-40f4-9175-473a86b9afe7 CLINVAR:891607 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca1d4119-b518-431f-959a-d67ca3fef984 CLINVAR:891607 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 644bb2c1-644f-4eb1-83b8-ea6e1c811496 CLINVAR:205566 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75f6b3cd-535f-475f-b335-6460f081e773 CLINVAR:205566 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2301539a-6852-44e7-9e67-a7336bf714ec CLINVAR:328349 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29514c74-27f6-4a43-b44a-6ad218040f3b CLINVAR:328349 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be0d1fb-7d5a-4656-b033-1e2c50f12d61 CLINVAR:2145645 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b13eee00-d33b-4421-a84a-c991835d8da3 CLINVAR:2145645 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 984d22c3-ad53-48e8-bcd9-30a4acd85362 CLINVAR:1552732 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81bff8a9-6a09-414a-9285-4240382372b8 CLINVAR:1552732 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 942d6dea-b57e-442f-98f7-b81f884dfb4d CLINVAR:439742 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eec36473-23f8-4cac-a0e5-a54ee816966c CLINVAR:439742 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f08ff82-ce82-46a9-9a22-8fc1ee04b65a CLINVAR:946936 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2d7f8c7-3cf1-4d6d-802e-d7310e14f5a8 CLINVAR:946936 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 819c5a92-c0ad-4a1c-aef3-6749aa927b5b CLINVAR:143556 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c6455bf-3eff-4883-8e6b-cd42f01b7216 CLINVAR:143556 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c364f656-ddab-42b1-979c-16590f54ad02 CLINVAR:1684314 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b5d8100-af32-47f3-a76f-1b019da85e9a CLINVAR:1684314 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cfab420-3dee-44b9-ab4e-69020a9354ae CAID:CA913184734 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7472fbca-0b48-46c3-ac11-d467a99a0fe6 CAID:CA913184734 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac42e332-b32f-4374-a295-e99b1e95f67a CAID:CA658795239 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 184cb5f6-5000-4b41-9c4e-8613320502d3 CAID:CA658795239 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70756c35-0ad1-4c83-b6be-3cf414812da9 CLINVAR:554983 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8729e6f-50c2-409a-931e-c7ef502994e3 CLINVAR:554983 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c6214ed-6236-44f0-a267-704261898f4b CLINVAR:849313 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff7ddf5b-4f9a-44b4-a603-b0b3cd9cb4ea CLINVAR:849313 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 826b45e3-b669-4572-9a45-e1f25083618b CLINVAR:3020821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a038822e-c78f-4914-aea5-3e1ac3bf672f CLINVAR:3020821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7e476c-5ca9-446b-b755-25942422820a CLINVAR:1401156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 564334f7-c570-4c71-b513-56eefe8758e6 CLINVAR:1401156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e04a388e-be44-4f85-b21c-4e3f2f322906 CLINVAR:2753273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 405de85a-1f17-4678-ba67-e3aef003642b CLINVAR:2753273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfde5d22-f7b3-4ba4-9cf2-4441bbf8140e CLINVAR:2905469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11bc8110-bc84-441b-8dd1-4b269b54c640 CLINVAR:2905469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3456463e-bdff-43e5-8b1e-e3a7eae73753 CAID:CA410202475 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbcadad1-f79a-429a-8fb5-d9ccd9a9b12f CAID:CA410202475 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7c8ce2-fbc2-4272-bd96-15c2366db7ba CLINVAR:944219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3046a03e-b8ff-453c-aea3-b77e4549b6b1 CLINVAR:944219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2148c4e-3807-4d1a-b277-417874ef4841 CLINVAR:2732592 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef99ae99-a306-417f-8853-90d9d521c517 CLINVAR:2732592 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b6a2c5-3e0b-4332-b01e-44db4a82018a CLINVAR:1945937 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c7b688f-4603-4b56-901a-b4b3196d5669 CLINVAR:1945937 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ede1b33-1535-4fc9-8feb-f5c411398024 CLINVAR:2757681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bdfc636-2584-45a0-add5-e5b69c6554af CLINVAR:2757681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b746c6-6a30-4ad3-8276-ae3d109b5043 CLINVAR:2883235 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7aecfb1f-bd6c-4ae4-9fbd-f7baccea1360 CLINVAR:2883235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 884d3e48-2ab7-439a-bedf-6282533299da CLINVAR:2692676 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6b05e92-fd2a-47e8-bdd5-de98ac7ced6e CLINVAR:2692676 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a796717-8e83-4feb-a9fd-c7c222de1d65 CLINVAR:2834717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b77e0b8-8240-40b9-9791-87c352ef1155 CLINVAR:2834717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13964c13-2989-4c41-83ce-24117e8236ad CLINVAR:2730661 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen faac509f-a32e-42c3-92ad-bd134f945035 CLINVAR:2730661 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9f60ca-c913-42b8-852f-1b3e9630bb60 CLINVAR:2859737 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b4e0a97-4346-42f3-b32d-12431eb65f23 CLINVAR:2859737 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb8d6ec-8407-4547-b7e3-5bcb4e9440bf CLINVAR:1898434 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f234830e-eadf-43e7-a049-d66d50aa9277 CLINVAR:1898434 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e54a5197-7bea-4b67-bd35-a6ae6b63385b CLINVAR:1482816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a93fcf3e-7237-4373-ba76-1b6eee6c2765 CLINVAR:1482816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 307d1145-7c81-4cff-b413-d8a016115356 CLINVAR:1022622 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 251a8fa5-f8fc-4d4c-a286-0cd33b45cc52 CLINVAR:1022622 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eb4ce3a-dda2-4bb3-a80d-7a262aad2c14 CLINVAR:2678498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2241d172-664a-4c38-a55e-044d3cd2bf80 CLINVAR:2678498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222e61d3-1342-4973-a4bb-f52fec15fdde CLINVAR:836080 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e46b9125-5c70-475e-8677-5759fb321bb5 CLINVAR:836080 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bfd51e2-7b9b-4342-8860-549c7417b9fc CLINVAR:2663436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3bc8139-17a7-4b05-916d-9230f6a07a42 CLINVAR:2663436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5642be3d-029a-4c45-a442-7266fc14cee5 CLINVAR:2990567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3bb8e0c-b67c-4fa9-bc73-fba390253171 CLINVAR:2990567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c069787d-2abd-41f0-bba1-c8797c6851be CLINVAR:2959673 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a4b9ee9-ac23-4ddb-a1cf-b902fbfb0c4a CLINVAR:2959673 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 016a4709-2741-47b1-99de-4306263d6cdc CLINVAR:2754122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5fe04fd5-9acf-4081-9272-92b1882d43bc CLINVAR:2754122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b02770c8-e557-4285-9055-08205c854a06 CLINVAR:339846 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffffddb9-2e3e-4362-b842-f21682eae319 CLINVAR:339846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6dfac8e-9459-4ab5-82d9-613a9ee94e07 CLINVAR:2803152 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd3a2b95-22c2-46ec-9bc2-e10c14d0412a CLINVAR:2803152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb02a0e6-347b-42f4-a76c-2c9385e496cc CLINVAR:1989558 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87f45fb5-93da-4ebe-b4c9-0892794191ba CLINVAR:1989558 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7155eb50-5efc-487e-842a-9ac917fca674 CLINVAR:2000813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72cded8d-2a2e-40a9-8422-14cdce870d7f CLINVAR:2000813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b406212-9553-4747-8beb-574b39332943 CLINVAR:1978596 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a67546fc-f4b8-4ca4-90ce-16340cece42b CLINVAR:1978596 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41caf455-6c5c-4280-9620-92364b2ad007 CLINVAR:937462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1f7f0c0-fdb1-410f-8fb9-32cd293ef167 CLINVAR:937462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67063ae7-ee7c-480e-a322-a82f9e1fca7f CLINVAR:1523457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b7bc6f9-0182-4a08-9938-1e413a4d769d CLINVAR:1523457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff1eee83-1791-4631-9085-bd0446bca0ef CLINVAR:942222 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8aea8298-b277-4abb-b663-952fca1ac580 CLINVAR:942222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f6e2d9-24df-4212-ae77-f5ce12b93d75 CLINVAR:1397177 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41a5fa5c-5406-4fe3-9795-1a29b99da64b CLINVAR:1397177 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec05863-b94c-4f93-b1d3-3d9b35b5413d CLINVAR:863315 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98c23dc5-3b6c-47bf-8d35-bdd3f220d1de CLINVAR:863315 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab71ce33-b3b8-402e-9bb0-14c08d1e657c CLINVAR:845799 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e361fd2-5cd7-4e63-bde6-05fed054ef6e CLINVAR:845799 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3293de32-f27d-4aa3-ba2e-9d54fc4d4ec5 CLINVAR:960548 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f331db3-9d2d-4b9b-a1aa-669dc9328ae2 CLINVAR:960548 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3af798-d298-4e71-82f8-1707e3c51dd7 CLINVAR:339820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 870c5009-de3d-4517-8949-07ff6709c655 CLINVAR:339820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8345452-ded6-4f60-a06f-c3be858a8c5d CLINVAR:3061340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51ac2f19-80e5-4b51-bdeb-4813791763e7 CLINVAR:3061340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e80e58e-0aaf-4c8c-9b17-a8aaef3317ad CLINVAR:1438523 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d6a5d9a-57b8-4d23-8911-12e9e9811acd CLINVAR:1438523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b01190-fcbb-42d6-b784-a5821c07f454 CLINVAR:1507190 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 625fe452-2a4d-41b7-aeb1-fdca2ca1228b CLINVAR:1507190 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07118513-b7d7-48c2-959f-02da492b76a8 CLINVAR:972242 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96d37074-857f-4802-80f0-c4108aff8bd4 CLINVAR:972242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f58fe36-2d2a-4771-bed6-d524c2795cee CLINVAR:1509041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df02db2f-6391-4316-aed2-122741516d52 CLINVAR:1509041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 230540e8-1269-454e-9b9b-fd895b5d370b CLINVAR:1010723 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a03df3ec-26a0-47d8-a46b-3c5d31c436fa CLINVAR:1010723 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 864f1025-94b8-466f-88d8-ce4f1c0929bf CLINVAR:1479428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d4f20e2-fdf0-4744-8716-1e2e0886667e CLINVAR:1479428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f09e25e1-553b-4889-9dcd-468e9703afef CLINVAR:2692670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c5ce9ca-40fc-4022-97c9-b056da366d17 CLINVAR:2692670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5094e1e1-127d-4905-923e-d29a0754d57e CLINVAR:2695395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 766520e4-d74d-4c88-973f-2517af12b56d CLINVAR:2695395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03489ba7-d5d5-4b40-99ff-df71245da669 CAID:CA410202720 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ce090e4-a6f8-46c2-8214-6e632e6f5908 CAID:CA410202720 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d8590fa-ac1a-4ea7-a443-0eed84aa2a14 CLINVAR:3367215 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5523d692-e680-473e-90c6-588b1ca49b85 CLINVAR:3367215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9369d6ff-5ac4-482c-bddb-a9c3dc06e546 CLINVAR:1422929 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c409c41-5a69-4193-8701-91da8329f4e1 CLINVAR:1422929 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1548541c-2090-4ae3-817f-4044ff5a8187 CLINVAR:1432362 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04603699-9beb-4a1a-a08b-458fdfecc0ab CLINVAR:1432362 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 194c6a3d-08ad-40b3-a47d-20b58df0e431 CLINVAR:1481257 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abf6f3c3-ca6d-4359-a68d-a0f623e73568 CLINVAR:1481257 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0b63aff-4b90-477e-9db6-14c458b33799 CLINVAR:1061802 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7e96b3b-45c2-4798-a99f-9b6b45ce148f CLINVAR:1061802 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe2f784-04a0-4854-907c-7f84a125d437 CLINVAR:1474271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4297956-c6e1-44b7-9e6a-b92ee6bafdf8 CLINVAR:1474271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 118d6e96-bd61-41f8-a835-a6037baf32e8 CLINVAR:1063502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe08b9fe-0862-452a-b1f5-ee6524da369c CLINVAR:1063502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d198e23-5350-4c70-a1d8-0ed386aba4d1 CLINVAR:1371567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 265d4148-c0de-4d29-9331-0a8999871168 CLINVAR:1371567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ebd3582-78c8-4441-8818-ea60a88a5e07 CLINVAR:1417387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0834792-71c7-49b7-9194-ec3c8e769e90 CLINVAR:1417387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8e2ad16-998d-4f83-9946-3c5b5bccef8d CLINVAR:934627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61ca1acb-28f6-40c4-8999-fb263f41d88c CLINVAR:934627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93001e2b-a1f0-4972-bd1c-936fa3706a26 CLINVAR:1430436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c005eb9a-4e9e-4d45-a109-47505d6ff64b CLINVAR:1430436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c76e522-07d0-4a7a-9fbe-690956581fb9 CLINVAR:934336 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71cf69d3-5d95-41d9-b40d-c864b1dc1331 CLINVAR:934336 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3daee9fa-d189-4f45-be18-a9063a73d11c CLINVAR:858272 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25694418-c917-413d-a842-38b820f8acaf CLINVAR:858272 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dead91a6-7679-4463-bcf3-114fe95cf0c3 CLINVAR:2752334 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9267d98-aaa5-4b42-a6c6-dc26b1b21843 CLINVAR:2752334 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6987816c-11f7-43b8-9901-1d0d1b1e20ed CLINVAR:1394837 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d7d6704-20d7-4e12-b231-f5a169786e52 CLINVAR:1394837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23f8581b-f9c2-4210-a7a7-cd765062f339 CAID:CA410203630 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdcac5e9-40e8-492a-b180-bb8ec030d6d3 CAID:CA410203630 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb00d5c6-d3e2-45d7-a179-d7673f80f9c9 CLINVAR:339845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1f617aa-72f1-4ec4-8a3a-eaa23d6a67a6 CLINVAR:339845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de3df5b-d644-4bfd-b1dc-f5bf6e35ec5f CLINVAR:1471561 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4311f8f7-2dd1-4924-9d26-75e44f557091 CLINVAR:1471561 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73f3b938-d9fa-4cc8-9b54-852d4f2642bb CLINVAR:1437603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb29c929-27be-4f54-b53d-0e1cc303c31f CLINVAR:1437603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdc6cb6b-538e-4e2a-a7db-556f23443fb6 CLINVAR:1701950 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d0d006d-0fd0-4bb1-b7b8-f2cb1fbfcae1 CLINVAR:1701950 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a560c5-8868-4210-b36e-a48ba5e55a3a CLINVAR:1467839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1066807f-46fc-47d2-b029-50110d69c840 CLINVAR:1467839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18133eff-3385-4a5d-83fd-5d61e3fb89aa CLINVAR:1346637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6b8380a-c4bf-4e3a-a5c2-bee0d69b85ac CLINVAR:1346637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ddac35-f24c-4b2c-853e-5deb09c6159d CLINVAR:1369516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13ca38af-bb44-48b7-9d9b-c8c36925408f CLINVAR:1369516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9f2347-123c-4886-b014-7b11a82a9e14 CLINVAR:1411636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbd5f865-1d5c-473e-8398-6ce618a7a720 CLINVAR:1411636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03bf7004-9770-476d-9cff-3884c92d06fd CLINVAR:988848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6e501e1-696d-41ca-bc21-c97feafe6812 CLINVAR:988848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc5bfd09-4f54-49bc-b80c-2100310afd7d CLINVAR:936839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbec6d6b-f435-4d79-98fa-804d6146a616 CLINVAR:936839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7e27798-23a7-486c-a6f8-5ce41b7a1794 CLINVAR:967968 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7962e2b-6402-4f9c-b40e-27fa3bf1d99c CLINVAR:967968 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33feffe0-b08f-4d1c-bf67-b5cb33935890 CLINVAR:646645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f38338a5-0eb9-4258-91e0-1a08da0ad8e9 CLINVAR:646645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 204b6caa-9e7c-4cc8-87ee-f757f49d755f CLINVAR:973890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77c27378-688a-4115-ac02-58de86c8a4d2 CLINVAR:973890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 635ca6d7-9b40-48c5-9820-16d0108b0f4e CLINVAR:1718521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6248a1a1-cb1a-4078-93e6-a9210b20c37a CLINVAR:1718521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab8d2bb6-157f-4de6-a056-b74e1be76fd3 CLINVAR:1684419 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 610320f0-c3e9-4218-8a7f-428db07cb1fc CLINVAR:1684419 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d86eaff0-f45e-43f8-8dc9-071b069c35a7 CLINVAR:1684411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f295b7f-3719-4f56-af84-c179efb7e082 CLINVAR:1684411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd53d88c-581c-4baa-b13c-47605aa93f21 CLINVAR:1516563 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a8d9e7a-8573-4e3a-9a45-e4693b81225d CLINVAR:1516563 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbc9478e-0567-49db-a6ee-b167ab0c247f CLINVAR:1493649 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05290ef6-89f8-4895-b34c-75f8f53a637f CLINVAR:1493649 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09ce7690-d4a5-4f70-bffb-def42d3e3a30 CLINVAR:1491218 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60428bb6-dbcd-441e-9e9d-4e78fb8eaddc CLINVAR:1491218 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0473293e-e1b7-4087-8166-e9db9b573994 CLINVAR:1489490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c2f4b59-31f1-4ccc-8c58-2ab6930dd0bc CLINVAR:1489490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8537209a-6913-46ab-8e03-7e3b3b75839b CLINVAR:845679 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65325dc7-f557-46dc-8fc5-27201eccca58 CLINVAR:845679 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f297c074-1dea-42d3-aa09-1be05afed596 CLINVAR:841418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb711a72-246e-4ce3-bb0b-3465504a97f6 CLINVAR:841418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8791c2f5-aea9-4aa4-b7ed-c4d8304ba9b4 CLINVAR:840832 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57dbe747-f594-42aa-98f6-f85d78f532fe CLINVAR:840832 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e647515-e4cb-4345-be61-2d5e10d726ed CLINVAR:664394 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98a2c051-52e5-4f33-ae77-b40c90debf8e CLINVAR:664394 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f08633-fa7e-4ca7-a716-0e674c086757 CLINVAR:648542 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78b45b18-0d06-4018-8c88-48920f2d9ee7 CLINVAR:648542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c5887d-1fb9-419e-a8ec-ae2954d55521 CLINVAR:1496920 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfc538a2-fc68-449e-95ce-a60d9a05befc CLINVAR:1496920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c20cc93f-7acb-41de-b5be-0befcda4a859 CLINVAR:464011 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3726cbcb-fc93-4557-99ad-d52668541d57 CLINVAR:464011 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d974b8-a0a5-431b-9b03-63de753d41d7 CLINVAR:2001601 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 219e4dc9-4aa6-48cc-93f1-17b6fd636d4b CLINVAR:2001601 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77da9a59-f73c-4595-9b9f-d1f8e1ee5f1c CLINVAR:532668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebc95b3f-7783-45f8-bcf1-1a328a44797e CLINVAR:532668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c1b781-4f32-4982-841f-73eef765c6cd CLINVAR:836066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81316fcc-ee23-4e09-8a4f-a30ef8356df3 CLINVAR:836066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8df0e07a-1f48-44e8-8e4f-3bd4066bfe7d CLINVAR:663181 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b29a4475-acbd-4aa7-a8d4-92a2cac374d3 CLINVAR:663181 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ad5d7a-1467-4c99-b239-f4707176bfc4 CLINVAR:663009 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93ca8196-28cd-4ac5-ad2a-7ab1cf415cb4 CLINVAR:663009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d09670a-21d5-4c74-b825-abcc55078d4a CLINVAR:658039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9de659a1-0222-4f3f-bc27-c1506439ca3c CLINVAR:658039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3ae4908-da92-455d-bf52-d8a0e2ee65af CLINVAR:657868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2476f168-53e4-4156-adb5-a1ed72c2be07 CLINVAR:657868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca69000-b5b9-4051-ac33-0f2410a6a75f CLINVAR:656386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f0b8b93-186a-4118-81f7-17dad0ffdcb1 CLINVAR:656386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7cd3ba7-64b4-4eac-82ca-67183fa15cc8 CLINVAR:650331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fbc843b-e68c-4772-8099-72164caa3424 CLINVAR:650331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32e93783-3c4c-4d48-a825-b8487c091e16 CLINVAR:650005 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 475fe044-e8f7-41ec-8ffb-0bc7dbc6dd66 CLINVAR:650005 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a125b560-e0fd-4ab5-9f8e-07d586fb2538 CLINVAR:643861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f5d3012-a769-46e1-a513-ea30ea308cac CLINVAR:643861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6f1bfc4-6214-48b7-a1fd-f147e00506f9 CLINVAR:641583 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2443ad2b-9fc1-4a1a-b774-1c2a0824de12 CLINVAR:641583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bc329f6-0e9f-4133-b7a8-5baffe7c58a2 CLINVAR:639088 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a88b42e3-06dc-48d9-adbe-0155b27eb4f5 CLINVAR:639088 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f380d3-2ded-42ec-a098-672f8808ed5c CLINVAR:576717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 292882e5-5170-4755-84fb-e897ab7ea348 CLINVAR:576717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce6f690-6e0d-40b1-a624-c193ba38e7b1 CLINVAR:573788 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f84c523a-3153-46c2-a027-255ebea172d1 CLINVAR:573788 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74de411d-ddf3-408a-9c6f-78267a18b2ed CLINVAR:573555 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6728d588-4ba7-44b3-b328-e3fe161ffaa4 CLINVAR:573555 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61f85901-b952-4a54-beaf-451393f7ece4 CLINVAR:572890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3236092d-27db-4e57-a2f6-22b35655fe5a CLINVAR:572890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9773858-3b23-447c-bae0-17b21fb03fc5 CLINVAR:570149 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a343eff1-2e5f-4c45-a197-5f72ee60d1b8 CLINVAR:570149 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90de627e-3505-4875-9006-ce24bed604ad CLINVAR:532660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef680011-6d4d-4867-91a6-fc30cbbbfc9a CLINVAR:532660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c46c13-ef65-47f9-a051-74749ab71707 CLINVAR:532657 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1aa72a63-e7ff-432a-9ac8-e717bf2da7fd CLINVAR:532657 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c044716-6a2b-4a29-9025-8f73c9a2b36e CLINVAR:532656 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e063611-81da-488d-a9be-c0a8700c8138 CLINVAR:532656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d5aa48-117f-4ecd-9f82-be19e759f45c CLINVAR:1678200 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9dda90d-b82f-4b3a-a90e-97fe96e979e8 CLINVAR:1678200 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d60fa21-a7f3-431b-b973-298a948a00d0 CLINVAR:626913 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 402a7233-77db-46b1-afbf-bae62a228384 CLINVAR:626913 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eb57728-63d6-45b6-ba03-ee284ec6f82a CLINVAR:626911 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 427f164a-93b7-4658-acf1-31ce9f36b23c CLINVAR:626911 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3260b689-df92-4b35-9239-dcba4b380ff4 CLINVAR:2146646 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4866d49b-c350-4f51-aeba-8d3eca84cbcd CLINVAR:2146646 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7aaf70a-3cc7-4431-809f-5d5f9b8e8d06 CLINVAR:1959 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3c836de-069d-4ce2-9112-e6f4d7644787 CLINVAR:1959 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bc8e8ec-9518-4631-9417-18b9db9833e4 CLINVAR:177778 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ced082d4-db55-481a-affb-246d1696bb09 CLINVAR:177778 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71568364-2c95-442c-97d1-ed5e8628e999 CLINVAR:1003866 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c83be60-256f-4269-8aa4-4a00841bf758 CLINVAR:1003866 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeed5159-ea75-4861-8fc7-288cbfd09329 CLINVAR:13903 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87c3c97d-2322-4d48-908e-6901f45e22fd CLINVAR:13903 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4242601-2ae5-4b6a-b1bc-e5e55222ab30 CLINVAR:1070042 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5cb59d0-59d4-4cc9-a929-60974ca41212 CLINVAR:1070042 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0e2dee-ce0c-46f0-9892-8aedc3a74ba1 CLINVAR:424299 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6626a3f-0e80-4cf4-9732-638216a6d5f3 CLINVAR:424299 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d8c5ad-79d9-49e2-8b69-ee978c59ec64 CLINVAR:561350 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e7a01f6-4431-4982-a762-d4e79f9c546f CLINVAR:561350 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367e8bcb-738e-45b0-9885-5ebe1f7c1e56 CLINVAR:200177 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9581535f-e077-4a00-888b-0ad17aff60b9 CLINVAR:200177 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4269593-3ebb-4eb1-be73-ab223e68382a CLINVAR:617874 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49bfaae4-9973-4692-9f29-03c54544a123 CLINVAR:617874 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ced40472-bdf7-4c07-84c2-fd4e458f7a87 CLINVAR:549173 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b17db294-9516-4331-9958-968435222c02 CLINVAR:549173 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f2c2655-afd0-411e-b2de-b93f04cacbd9 CLINVAR:42339 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8166a73f-8b2d-4f3c-83eb-18aaee992bec CLINVAR:42339 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49aec09-d301-4e94-b9ea-0d1337b7dd1a CLINVAR:549019 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a593cd15-a104-4152-bcde-142f4265b7e3 CLINVAR:549019 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bccb6f4-1207-4cac-b87b-c10fad122521 CLINVAR:549180 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da2abaa2-2060-4723-8488-437c8352c906 CLINVAR:549180 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb99c15-fe8a-47b8-b763-461fa54713fa CLINVAR:495598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c89a1a5e-d1fe-4171-a03a-dad965329ba9 CLINVAR:495598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7b1cf4d-210f-44cc-b29d-acc8c0b037c8 CLINVAR:200022 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f1953c5-2b84-43d5-b535-115995b6677a CLINVAR:200022 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7d17cf-2f6a-4e8a-a734-2e3310adb591 CLINVAR:495558 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90cfb9f8-305e-4987-829b-0ba1942a74f8 CLINVAR:495558 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63259a73-223a-4127-a4d6-27b52bf6a251 CLINVAR:36034 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ace2dbab-ffd8-4e00-a081-155549ccee05 CLINVAR:36034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5007a356-2bc3-4890-a86b-f824d3a7e812 CLINVAR:164809 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58a04713-1959-4882-87e2-e49a8af7d17e CLINVAR:164809 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d940cb5-8782-4cd6-be89-ffae99a76f48 CLINVAR:179025 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d51902a1-9c4b-4ca9-8437-22cce2428a96 CLINVAR:179025 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70cd671d-fd88-4f03-ba22-c19881a5fd0c CLINVAR:209089 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 320069fc-4c7f-41a1-8673-6bcce8b63db3 CLINVAR:209089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448c07ff-f04d-4ba4-bea8-0536ebbbafe3 CLINVAR:2078744 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 679182e0-37d4-41be-91a3-4f9ae0f0bef1 CLINVAR:2078744 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbc188a4-b1dd-489d-9ef2-553ebd53bdfe CLINVAR:195024 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cb897f4-e11c-4db9-81a0-e45f47a5886d CLINVAR:195024 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f00e0f8-23ec-4a59-9e60-b092b49b8e72 CAID:CA414444915 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77dd69f8-1f81-4ede-a796-51784c83b7f0 CAID:CA414444915 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ff343b-fd82-452d-b62e-28a40a8a9828 CAID:CA414444922 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3cf25316-2522-43af-b57c-2e6e3f5ce4db CAID:CA414444922 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709b2d5e-5e9b-4314-aad5-924f66ed1b40 CLINVAR:2138734 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba8f5181-ebe0-440e-ac7c-9e8ac5f2aa19 CLINVAR:2138734 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d24eabc0-eb00-4fe0-a66f-0db3535bbda9 CLINVAR:10602 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5dbe68f8-4e1d-4bc5-bf94-dbc11303d1c6 CLINVAR:10602 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2121b033-58c9-4f7e-8725-cfd061010d42 CLINVAR:627177 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e58db9af-36fd-41e9-8b9f-a42f8cb6e737 CLINVAR:627177 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12e369ac-f0de-4a2f-b8d3-9db0e6805eb9 CAID:CA410780392 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4d57921-4ece-4233-9add-f2ff85685bca CAID:CA410780392 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20d08084-5741-4a56-b3ed-5f71b209f39a CLINVAR:705680 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4978e7ed-2251-4d41-8602-ea0b5776410a CLINVAR:705680 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99d22991-9b76-4dc2-a020-c01bbe4d7a46 CLINVAR:973830 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ae5f340-b06e-4685-92d5-ecece55fd4d9 CLINVAR:973830 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb2dcd0-1a0b-493b-bfa5-f29dc0950366 CLINVAR:898727 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 920e42e1-9a9a-4d84-b83d-55fac15e22bf CLINVAR:898727 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2793ecfc-10c6-4ff5-a6c2-54a22a81921d CLINVAR:523986 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93bf81df-db8d-4fc9-aae0-e0bcfcb0a589 CLINVAR:523986 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f97862f-5e69-4052-8a5f-3d8c3b9c3c1d CLINVAR:2634012 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9bfbb0a-1c24-4112-a410-4ed957a29e65 CLINVAR:2634012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2be84d2b-7947-438b-a6f0-0516d7b76528 CLINVAR:2757091 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8580f698-1f30-440f-a5f0-44d7f61e7570 CLINVAR:2757091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7c04100-7480-45aa-a38e-152123568d90 CLINVAR:2839740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b2fd2d1-f96f-4bd4-8401-653526a6db58 CLINVAR:2839740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a2ec3c5-b883-4f44-985e-1f6a1cca0be8 CLINVAR:2750881 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8df1ab00-116c-4cc9-9702-e3bc7323288e CLINVAR:2750881 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e9f88dc-71ad-4cbc-b87d-9bb072e98576 CLINVAR:2112037 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3339047-5457-49a7-b128-d92a0dc621d3 CLINVAR:2112037 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 502ea3a3-b9e2-4a2a-b2c9-bb7830af8934 CLINVAR:522800 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7273fb48-6adb-42f1-8006-3b13336b7552 CLINVAR:522800 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf76631-3b40-410a-a50d-646a79c1a58a CLINVAR:522164 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23054d2c-2172-4042-8f20-84400a0f5f7a CLINVAR:522164 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40458718-adde-4719-8c6c-7a906e63c152 CLINVAR:561716 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86fcb4e2-49c5-4d88-842c-bb00aa1978b1 CLINVAR:561716 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 085dbd9e-46da-4665-8c78-6e80e970b4c4 CLINVAR:1066305 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1420fdf-534d-4f8b-9180-ef9bee7f8fe3 CLINVAR:1066305 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6556c12b-ce71-4c6f-8b52-7ad8af15fc9e CLINVAR:599033 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 992e9dd2-c811-40cf-bbaa-14ffc6fd958e CLINVAR:599033 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 617ec9d2-78dd-4422-9ed1-abbf8d3c2686 CLINVAR:561683 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6d63178-cfa2-4c0b-b9fc-350a1e2f9710 CLINVAR:561683 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c358fe9d-d3a7-46d7-8108-c0d00017c8ee CLINVAR:522799 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85de4eed-4273-4e4a-81bf-9e30d5042eef CLINVAR:522799 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6daebe2-d312-4d0e-a8ea-2e62351a5e98 CLINVAR:451722 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18862dfe-d565-43b1-b688-48d553798379 CLINVAR:451722 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e917575-d9bf-4d5f-8bd5-9de71c70ce71 CLINVAR:3383924 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 713420d1-5199-432f-926d-60e1d231b705 CLINVAR:3383924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d8fff99-d8c6-4786-908e-dd25c524aaf8 CAID:CA367400483 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cb471ed-88f4-4e88-aebe-5fa6bb1a00e1 CAID:CA367400483 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ada6fdc3-d59d-4f59-a50b-25871201b7f6 CAID:CA367400486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 196a5ecb-3829-4f28-876d-75975b991e00 CAID:CA367400486 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f97428-4438-4252-9312-d192d66bcd90 CLINVAR:658067 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be2f1edb-48ab-4a75-a1bf-8b996ab7a084 CLINVAR:658067 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d253ffe-4b66-464e-8d27-0d6daf4ba969 CLINVAR:374331 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b186bb7-804a-42ba-9849-0b2285083cbb CLINVAR:374331 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb87362-adfd-4e46-9c2c-7a43bea2fb25 CLINVAR:372977 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6934f633-7926-4df6-9f45-e3c86eeef70e CLINVAR:372977 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2077a882-72e1-4359-a5d4-8afb9fbd87f7 CLINVAR:12893 biolink:causes MONDO:0000700 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff74e058-0aee-421d-a31f-951fb7e06672 CLINVAR:12893 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49b51628-c276-48a2-84ef-8342a7ebc3ff CLINVAR:393000 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c595a39e-5e38-407a-a089-8bddbd8a1edf CLINVAR:393000 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0467a5d6-4365-4553-9068-4b1fa26eb78c CLINVAR:130208 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eff4b005-7812-429e-bedc-fc565fa6f71c CLINVAR:130208 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e411f9e0-77e3-4fbb-995e-525a36ea007f CAID:CA2695216038 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8991f2e7-537e-420f-b141-73f785a700ee CAID:CA2695216038 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae5096a-fc0a-41d1-8613-a9617a5fd2dd CAID:CA383520062 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82658773-c685-4540-968a-e44d21003348 CAID:CA383520062 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a88e7b-89e1-48a8-b2b5-2633dfc2996c CLINVAR:425863 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de6234d2-9d53-43ac-b082-0c331aa3559e CLINVAR:425863 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 622edf07-56ff-4d02-a7fb-0b466b7344d2 CLINVAR:425885 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be923280-b780-43f8-9e09-b2f9e348e56a CLINVAR:425885 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 052e73bd-29da-44f0-8f0f-42ae9f6645da CLINVAR:425886 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00588dd5-aff4-42c5-90bb-c7edca5d9dbb CLINVAR:425886 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a67995-5c3e-4ab7-8109-91d3c93133d3 CLINVAR:425887 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b77be81-9507-496e-9cb7-ca583029fd30 CLINVAR:425887 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eefd937-16c0-4b46-8a0e-a5efefb09963 CLINVAR:425884 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb543084-c00a-4420-a6a4-383b7c85646d CLINVAR:425884 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ace72c-6b62-4e48-8ea8-992d3dcafa5f CLINVAR:425883 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1936f48-28fc-4857-9ffb-d77441517883 CLINVAR:425883 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d7bcdd7-f9a5-4407-9165-36101cdd63ae CLINVAR:425888 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c722d14-14de-4e09-82df-6d3b78b95aca CLINVAR:425888 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 623495bc-b072-4b62-981d-6e81c57f5810 CLINVAR:425889 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b57688a-5b67-419e-a354-f949703e7af1 CLINVAR:425889 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 417baae1-e43a-4066-8a88-d1b94d89d887 CLINVAR:323556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9db41d9b-c0d3-4038-bbb0-ef571d31d88c CLINVAR:323556 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b86b45b-6f82-4089-b896-2c85d2959857 CLINVAR:888902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e45da5a-1952-4ce8-987a-31d97a4035c0 CLINVAR:888902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07f15f49-cce8-43fd-9fac-d0a122ac6109 CLINVAR:1698808 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e5ef8c0-496e-473a-87e8-43c3d790ea1b CLINVAR:1698808 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0ac1960-3c15-4144-989b-df1d07b4c924 CLINVAR:477043 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2c2e883-9499-4928-b4cc-9f71ed6d61db CLINVAR:477043 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62ce7080-1599-4ce9-9fa5-f5f8c95d8d25 CLINVAR:254293 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c773bdb4-516e-4ccc-8266-d02f30410353 CLINVAR:254293 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0282fb76-720b-434c-a193-94dc694d0858 CLINVAR:664199 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99ce1634-8ff4-4e93-8c35-0f1105a51feb CLINVAR:664199 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a9b324-3b02-4ed5-b25f-a76b5eb37d2c CLINVAR:339882 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4631e549-428e-4c47-9440-73a7dabe9cdb CLINVAR:339882 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f937be0f-9e0f-483b-b1c7-09ebf5bd2b1a CLINVAR:339813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01a3f3b8-ca7a-4419-b141-7111c8f97ca7 CLINVAR:339813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07c7de6a-0452-481a-bad8-44e0b2b6496a CLINVAR:897695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1356600-a704-4652-b4b8-5e7c7435a7ab CLINVAR:897695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0049ed5c-6764-4465-bbe9-b67ee88965d7 CLINVAR:1040892 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb960c51-0599-4b90-8e2b-4d1ea488cab1 CLINVAR:1040892 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333f9566-1f78-43ae-8e12-ac2e4e872a84 CLINVAR:2728565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e0b21f2-ea67-45e7-96c8-d17e96e12230 CLINVAR:2728565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b28a663-5699-4637-8b12-428adef5586a CLINVAR:964321 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5146aef-007a-4572-b24e-c74c3c8eecb4 CLINVAR:964321 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce6b46c0-62e8-4c56-a862-590e9d7f4e4c CLINVAR:2419700 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 777f2913-2ee0-4d6b-af64-e7d0bb7c248c CLINVAR:2419700 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3393a91-6833-4ff7-80db-0c5e1d5d2ee3 CLINVAR:857804 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 980f32dc-551e-4724-b3f5-0d351a620c07 CLINVAR:857804 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c75740-2651-4566-b203-8f0b95f876d8 CLINVAR:970259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c71867c7-8a2c-4659-8352-89e8bb889c57 CLINVAR:970259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ce27aa-b484-49b5-9723-fb2c730f6bb2 CLINVAR:988867 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4ce4279-e845-49ab-9ee0-dc19b9577fbd CLINVAR:988867 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab405b6f-854e-487a-8249-fe037fcd3f7e CLINVAR:840865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4acdf4bd-906d-48f7-889e-805ccab92dbc CLINVAR:840865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1910cb95-94c4-486e-b954-ee44590934fb CLINVAR:409817 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da5f35fe-2761-4ebb-b0ac-842f31b96d57 CLINVAR:409817 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7258a3c3-afb6-43bd-bd37-ea53244e5631 CLINVAR:2728942 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a96e7633-9b70-42aa-a8ec-eb1c01a14bda CLINVAR:2728942 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ea46f64-ca18-43f6-b6ff-25f600fbf54b CLINVAR:2678491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eed61a4e-1d21-4f39-af8f-2674982a8284 CLINVAR:2678491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff4fe798-5584-4e66-8a35-3812fe254e7e CLINVAR:856836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4578fbd-06eb-494d-9c27-0b6072422cc0 CLINVAR:856836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd23e7ba-54a2-4ab3-925e-0d3038c20662 CLINVAR:1037898 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7009330e-895d-4505-93ab-3de543536418 CLINVAR:1037898 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75fa7f60-ce60-4719-bb46-9130e13cc0af CLINVAR:1447557 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e769ba86-a839-47c4-bf78-290d0c560c5c CLINVAR:1447557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33c75984-2ea6-4787-ac4d-36ce96199ec1 CLINVAR:2154408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b104ddf-88de-4636-962b-2bd6124920d5 CLINVAR:2154408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6172d930-6e9d-43a7-af0c-63d3f6c5d05f CLINVAR:463998 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d9a57ac-4922-46e9-8e8e-30670fe09ce5 CLINVAR:463998 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde2ed23-8ebc-44cb-9f6c-224b2602c2cc CLINVAR:409821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23368e32-7de5-4e16-b9e2-ed4601c7d481 CLINVAR:409821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b721db48-28c2-4542-b8f8-303936c18d41 CLINVAR:2045031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 020692fc-6c27-4c2c-96c4-df423a300b59 CLINVAR:2045031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83d523f-51c7-4de2-bae5-62ed2b951525 CLINVAR:409807 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a88af504-befd-4517-b603-0f27b8d5112c CLINVAR:409807 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a35c2030-d244-41f2-a12d-ac9b49afc21a CLINVAR:1346335 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14ecbd1b-728a-4565-87e5-92b3ac0aff01 CLINVAR:1346335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c48d5fc8-c85a-4ec8-9a8b-5fb6003ef088 CLINVAR:1410456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1f97ed1-502f-4fa6-b449-4d2c91a52b05 CLINVAR:1410456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0984719c-bcc0-4469-a8b8-23d0a2f27088 CLINVAR:2116456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d382af13-fe80-4090-bf6e-8da8e4357ca8 CLINVAR:2116456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df3a88f2-6a8a-4510-9289-a131df4f4085 CLINVAR:2003023 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9531a92e-6186-404f-8f90-7f5f411f164e CLINVAR:2003023 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d5bcf8-ad92-4589-b3d5-d334746ce024 CLINVAR:339880 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2264611-fc2b-42ef-9c1c-02ad9be22166 CLINVAR:339880 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 616ac667-22fd-4b3a-a6c4-2619dd4beb34 CLINVAR:895826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbd7a9bc-496b-4544-9dea-288c26a43bab CLINVAR:895826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 366a569c-4a4f-4688-ae91-3e17c9dfe18d CLINVAR:339847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c81d0146-26f9-4372-a89b-9a50e95090cd CLINVAR:339847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65e90225-0bfd-4b70-9c1f-59cd84b14b53 CLINVAR:898860 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebb90fe6-cf1d-49d2-b31e-8bfd05c03d8a CLINVAR:898860 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc0fbae-6e2f-4faf-9853-efe068e45e8f CLINVAR:339834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5b5e446-dc13-4c2c-8481-5ce5e4cc45b2 CLINVAR:339834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e5b943-d0bd-4424-be2b-c0ae5cf75693 CLINVAR:896042 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdca1486-05a4-447a-891a-98be17df73c7 CLINVAR:896042 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf03ace2-a4c4-4bfb-8c34-f578b534b84c CLINVAR:339814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 973add88-4f7b-4011-9be0-c85d7872c6df CLINVAR:339814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e9e4a0d-2282-453b-86be-060e3c2a31cb CLINVAR:897697 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 920d9b04-b873-4fb8-a7a1-ff066bf538b7 CLINVAR:897697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be94122-67f4-4d3d-8f40-13b1268c189b CLINVAR:897570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c7fed63-89f5-4bb3-880c-6584cb2c278a CLINVAR:897570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94c18b40-c8c1-43c5-bc6b-b921c214c465 CLINVAR:897093 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 927ea6d8-34bd-4d33-82da-4a2134a9c917 CLINVAR:897093 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3dfb25b-4ff8-41ba-ae82-66eb12f8741f CLINVAR:339861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec6b17f3-ad07-4f5e-bfb5-37b8e03e31a6 CLINVAR:339861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e853d3-4495-4a19-82c5-472534aaa89d CLINVAR:965008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39a0329f-b853-4c62-a479-226e958e6614 CLINVAR:965008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a924851a-9d26-43fe-b2f5-1c3a6d19e18d CLINVAR:1022964 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13bb77b6-8771-4c62-ac63-b95109a932f8 CLINVAR:1022964 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930b2642-3c67-4637-806d-bb13fff2d8c2 CLINVAR:934759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61e2e05e-4061-4b80-9d68-78b6031e8ee9 CLINVAR:934759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 613cd4e3-4ebb-4764-a658-4ac360f23c44 CLINVAR:417952 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b127ae57-8cc4-4801-b756-000c71d7caa5 CLINVAR:417952 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c38f056-3f25-465f-9a26-82a6c5dd2106 CLINVAR:316212 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d806923-3b46-4cd0-a7dc-eaea3ba0cf3b CLINVAR:316212 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba942b16-a256-4024-81e1-0b75b907f5b7 CLINVAR:449185 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5b26b5a-8528-4db6-8e15-024cf71788f2 CLINVAR:449185 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 928f9ffd-28ec-4d24-81f3-250ca8f2bd6b CLINVAR:588254 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae194256-4f47-4901-8b62-f1ffeff81049 CLINVAR:588254 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6614ccbc-91f9-41da-9113-1be0ccb02c2c CLINVAR:1562414 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fac35b58-ee4d-4b4c-b809-acb8540b33f7 CLINVAR:1562414 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cd59782-ece9-478e-acf8-344400dda5dc CLINVAR:917570 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3729e1cd-24f9-4d3d-952e-8c51295c05e4 CLINVAR:917570 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3c5d7f-f071-4396-bd64-4c3137580136 CLINVAR:1676188 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1ea899c-126d-4251-9440-43b9506ea349 CLINVAR:1676188 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 424772dc-83c4-4fea-beac-de4cbcd6128d CLINVAR:9679 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 438d6811-95fe-4c77-9291-c482b171af6d CLINVAR:9679 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dc50918-43f9-4f6c-8deb-0cf6f8808f92 CLINVAR:9681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab1d6e72-5fb4-4e7a-b5d5-25534178fe2e CLINVAR:9681 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 639a6346-c9dc-4ac9-a454-e903cc845497 CLINVAR:382591 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db9e2a60-b498-40c5-8ef3-0bfc7ae2997d CLINVAR:382591 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 012546fd-d808-4191-8812-3f8f2e6281e9 CLINVAR:9662 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73eddfaf-d374-4dda-b8be-2b434280e7c3 CLINVAR:9662 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9196444-f30f-4182-baf9-a515457ead65 CLINVAR:995600 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b11d0625-758d-4e74-b7b3-55f1692ff8a6 CLINVAR:995600 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e2daf2a-d30e-4398-973b-cab49aea4be7 CAID:CA16020765 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa9528fd-651c-4c6e-9a91-594dabe6c53f CAID:CA16020765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c77c2f-ba08-44bb-a23b-55a4018c1946 CLINVAR:102683 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61041f94-c846-4515-a2b4-b3ec020ef529 CLINVAR:102683 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a902d3-40ad-4836-a33c-cede837ce611 CLINVAR:102682 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d262398d-0e3c-43b5-b98c-100ef0f02710 CLINVAR:102682 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 287eff02-386b-4c86-85b9-5080b51fdc8f CLINVAR:102636 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf8c2b97-2ece-42b5-b667-47acafb15c99 CLINVAR:102636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c354355c-1a42-4767-9f08-2add24433cea CLINVAR:102637 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9119b317-eb86-4643-a615-706fb3a903b5 CLINVAR:102637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25bdd4ef-c8fa-4b8a-941d-dcbbbce2ae18 CAID:CA16020793 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67248e75-f6c1-4ba2-9199-f9943b34cf72 CAID:CA16020793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b19d2f7f-6f2b-4456-a54f-cbb5dcfb574d CAID:CA386296891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9731125c-cefd-4b6b-8765-2d6cadae743a CAID:CA386296891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04428a4b-a1a8-4905-938f-ae2568e376de CLINVAR:102695 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb585681-feec-40dd-b3d4-d01cd064bd04 CLINVAR:102695 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5504cca-0b82-4f81-aac0-e09a47a014c6 CLINVAR:134528 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 794c8c3f-20da-4463-92e7-44c6f5ffd3f8 CLINVAR:134528 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c147b9d-ffc4-4a67-afd7-3526ae825a54 CLINVAR:9658 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdadf3bf-543d-456a-b94d-7144112bc826 CLINVAR:9658 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e52ef31-5c49-4656-86b5-0dd711889c3d CLINVAR:9665 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52aea14d-422e-4fc8-b66d-9314aa05fe25 CLINVAR:9665 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0cfe19e-1630-4b6b-9c26-03ffbad109e9 CLINVAR:430687 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8faaa70-11d7-469f-8786-a779d55ecb81 CLINVAR:430687 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62358864-6cb9-4fde-9834-78c4101f05d4 CLINVAR:9599 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e70fd66-04ec-4d69-b075-af1f6c951602 CLINVAR:9587 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d65f68cc-5a42-41e7-a47e-c5e9552b89b9 CLINVAR:9587 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d078a1fc-efa2-443e-b3fc-485a8781073b CLINVAR:9595 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6c06718-5a69-4678-a769-ffd403d4cefa CLINVAR:9595 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 951e358c-b801-4ec9-b604-e00e790666d9 CLINVAR:689861 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86d64bad-7aca-40c5-8504-4de8df63c9a1 CLINVAR:689861 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5afcfda-53cc-415d-8f73-b202829aaf5c CLINVAR:689895 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f20fe98-512c-4076-aa81-fe9130b50d49 CLINVAR:689895 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e85cfc89-7586-4c64-ad63-a66bf0bef7d8 CLINVAR:692361 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b26947f5-d870-49c4-8ed5-bbd9b5d9121c CLINVAR:692361 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed5b769b-bbc5-4116-b28b-cbbcb1ef52e4 CLINVAR:812543 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7915b881-bd2e-41f4-90a3-5057e25300b4 CLINVAR:812543 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad2d07d-6a70-4f44-a77f-8b62be75ede5 CLINVAR:9216 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2309981d-3a60-42da-b1ce-b6aa83940f97 CLINVAR:9216 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f495f3fc-eec8-4e89-802b-6d466030bd92 CLINVAR:2580875 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 867efca0-7ac5-4bb9-97f8-7cc67d09c44e CLINVAR:2580875 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8caf61a-c1f0-467a-a20f-6cc0e62bf8be CLINVAR:558316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 477e0443-d617-4139-b9b4-f6c2e5040eff CLINVAR:558316 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17d7e640-b0c2-48da-974c-449720fb0eac CLINVAR:444626 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb0c42dd-bd72-45f6-a35f-d3f20238fe64 CLINVAR:444626 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea39b2a1-89c1-400d-b814-54eef989a999 CLINVAR:92644 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e85fb52-5f28-419c-962d-aa72802966ec CLINVAR:92644 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c2f9679-3ec5-42a2-aa5c-44daa02c0f18 CAID:CA2573332224 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b641c23a-2d1a-4ee8-b1bf-1ff815a2475b CAID:CA2573332224 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4661cf7e-38bf-428f-a38d-5c4f7232a653 CLINVAR:2704858 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43089f8a-b929-4864-9474-d0ab9047c187 CLINVAR:2704858 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90fd1e99-2631-482a-8522-99d6a93be73a CLINVAR:1323099 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08ee9a71-3745-40de-8da3-44abf5b6cea2 CLINVAR:1323099 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1341bf7e-2f2c-4d78-85ad-c2ce682eea92 CLINVAR:92636 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24581108-6bcb-4618-83b1-826b839e44f0 CLINVAR:92636 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d032fe3-941d-4c78-972b-f55372a8173f CLINVAR:1323098 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c26d005-3acc-481c-9fc5-fb1164acef3d CLINVAR:1323098 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f999aff5-6401-4312-866f-44e324c0fbd6 CLINVAR:638074 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cdca1d4-20c0-4287-9c52-824ffd126a76 CLINVAR:638074 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e369d5-8f35-4f3a-a2f8-a7d68473159c CLINVAR:828094 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bd87228-d99d-4866-b84d-c71d56551a5f CLINVAR:828094 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd4e6fe-09e7-4f5c-a074-919bbed650a9 CLINVAR:193061 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24b19f7f-08de-43ab-b785-067c53818ddd CLINVAR:193061 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5457f4f7-ef34-47c3-9429-d53f73507f57 CLINVAR:222994 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a70f69e-eef9-4647-bd55-9139253f6d5a CLINVAR:222994 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ebfff53-2694-43cb-9ca0-883abfa15b2d CLINVAR:92643 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d92c9cf1-4ef8-4ece-a8f8-63098c683274 CLINVAR:92643 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f06852c-da0e-48d9-9d28-fba493591594 CLINVAR:557616 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be50d74c-a160-4a77-9dbb-ab4ac20f777d CLINVAR:557616 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4adc9d5-8933-43ad-ad74-026aa5e6a494 CLINVAR:1406350 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00322be1-d452-477d-a6b4-154352774cfe CLINVAR:1406350 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9e3069c-4929-429b-a3c8-b3630e901940 CLINVAR:1968567 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80008a31-5433-40d6-b38c-68bd25010496 CLINVAR:1968567 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc00e001-028c-4825-bc2b-5ec2074a1102 CLINVAR:905912 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1e21340-5607-4010-9f2b-97ba55dc6767 CLINVAR:905912 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4674c3b3-ecbe-4031-9541-2b6651c0f1ad CLINVAR:1309246 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a9a538e-b8b4-4f40-8e73-36cc25c69f9e CLINVAR:1309246 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25c23fac-2e76-4b49-a27c-7a7a96b48bd8 CLINVAR:967585 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 137b99e3-298a-44c3-bcd9-41564ba934f9 CLINVAR:967585 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fedd5696-2175-454d-bd66-cce5cb70051c CLINVAR:1384361 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02019c9c-b009-4103-bb23-8cd63d996680 CLINVAR:1384361 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64bf40a3-4b83-4aed-bacd-c110712d970f CLINVAR:1458769 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e23b2aab-fda0-44b5-93b3-8aed8cb5bf3b CLINVAR:1458769 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45dbf3fe-835b-4906-af70-af3f522715a3 CLINVAR:557260 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09966634-4e81-4239-8cf9-2fb4e212044d CLINVAR:557260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e6b2ecb-5de0-48ef-bafc-8bce86c0b3c6 CLINVAR:1455223 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2860c1f8-9457-41a3-b3da-e4d5a9d9f434 CLINVAR:1455223 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625af8b8-1404-4513-9c2d-b11b2fa57d74 CLINVAR:11920 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e31cacc-73f4-41f5-ab69-d0d4a2c4ac24 CLINVAR:11920 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f5c06e-5a7d-4edb-9b65-52e1bc17fe05 CLINVAR:551675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 625dd2a6-9c05-4aba-b16f-57853bdd12d3 CLINVAR:551675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ad3662e-b664-48c2-841e-f1f968e758e5 CLINVAR:2198440 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6398f29a-2069-4cf1-a119-489107de8234 CLINVAR:2198440 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79817b12-6d78-425c-a555-06a7128fa771 CLINVAR:557205 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 129effb6-41b9-4e35-af1d-533dde62eb8d CLINVAR:557205 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65ec39c-06bd-4352-b7fe-03fb00651e55 CLINVAR:183099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f779993f-5b12-43e5-99a0-7b81d69d2a1c CLINVAR:183099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32e52e90-a527-440d-8528-d3f9de62bf19 CLINVAR:450684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c40985a-3197-4ee6-9470-995f070b7661 CLINVAR:450684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac542d9-aa21-4ae0-9448-935c621ed80a CLINVAR:251487 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8b11ccf-876d-4fc1-8425-ae6c25fdca00 CLINVAR:251487 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c53ef5c-11e0-47e4-bf61-60e8a0ee932c CLINVAR:18286 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a8617cf-cc1b-4d53-829b-4b064cf513e6 CLINVAR:18286 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1f2611e-09d8-490a-8f4d-baf57e44dfd5 CLINVAR:464113 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b39f0000-84a1-40fa-a7a2-091c378baeef CLINVAR:464113 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdb050c4-d5fa-48f2-a3d3-16b75f16e2a6 CLINVAR:1303122 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc68175b-05f9-41d5-84b5-723523ce310c CLINVAR:1303122 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c5b69c-9cb2-4d62-92ab-8cfcd46904e1 CAID:CA345144077 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58cec60a-1687-4ce9-b17b-f3dc02adaccc CAID:CA345144077 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df333b52-60ad-4136-8970-61042b9d5d40 CLINVAR:835545 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8ca5632-883b-4d9d-9483-578ef0cbd7f2 CLINVAR:835545 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 415a907b-25fd-4c57-93f1-e8cb46b91e3f CLINVAR:1051987 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db1844f5-b02c-408d-9488-2f04eb42fbb7 CLINVAR:1051987 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73d5e8cd-a23a-4ef1-b534-884937db9313 CLINVAR:127188 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cde52535-443a-4095-8878-f7647f586373 CLINVAR:127188 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b173f39c-3ce4-4098-a960-9efca460ef16 CLINVAR:1034583 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5ea7905-8545-4340-b2a4-36daa23b8ac3 CLINVAR:1034583 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44b6b90a-3c53-42e3-90b4-1565a3623d41 CLINVAR:3391411 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9ebca27-f9d8-4e84-9472-6fceec8ad82c CLINVAR:3391411 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b746d0dd-9045-4696-bc07-f19feee32e55 CAID:CA8603165 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c238220-953b-4bbc-842d-bc5958a9f0fe CAID:CA8603165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d2f7e5-c52c-41fd-9966-cb237148850d CAID:CA399804710 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 193094fb-4d8e-4fd4-bb7d-c40220a51684 CAID:CA399804710 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fdc5084-e433-439b-9764-d124cf51ad3a CAID:CA500262444 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3a07a8c-0bc6-4a51-8d82-3efe40bc754b CAID:CA500262444 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ff3811-0a71-439b-924e-68a9008d76f3 CLINVAR:9734 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab8f6b1c-df4f-4c52-8ad6-8f87cc4b647f CLINVAR:9734 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46453c61-0008-4ad0-b561-a7198bc7879b CLINVAR:9735 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f06a3ff5-c316-46bd-b2b4-60af573074a9 CLINVAR:9735 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 361b1050-971b-4d22-b5f1-b8090c4ed725 CLINVAR:155880 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6d3da06-385a-4392-a8ed-ae355731b7bc CLINVAR:155880 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a800fe9-2ae1-4fe1-806c-de18921a7bb5 CLINVAR:800504 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24c657a0-16e5-4c61-bbb7-974a05d55734 CLINVAR:800504 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d490598c-9a39-4caf-8b63-1278cef37aa9 CLINVAR:155887 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2aa6353-676c-45aa-9aa1-441d35817272 CLINVAR:155887 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea15a7bb-7487-4e50-8719-9ea5554e0323 CLINVAR:9706 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2477ffd8-7c6d-43c9-a2f6-09dfb28517e0 CLINVAR:9706 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8805fde8-f94f-4a5d-8ee0-337c56d70dfc CLINVAR:9660 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2b15c4c-bfe1-4269-9a99-d094877ee4a0 CLINVAR:9660 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d3f36d-8b8c-48cb-9203-af85038b4c6a CLINVAR:3774391 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 645df823-fdaa-4309-a3b9-2ea00b69c2f8 CLINVAR:3774391 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c2e75ae-d3c9-42b9-96b5-2f480cb963cc CLINVAR:9671 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba642517-378e-4f5b-81f1-feb647b71722 CLINVAR:9671 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e58e4a2f-eabb-4df1-a307-21094a931de4 CLINVAR:9561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c796111-69e6-4cd4-8c9a-afaff570cf15 CLINVAR:9561 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddad3307-4a6f-4898-b036-1e3415ae3ee5 CLINVAR:1802530 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbc1a67a-395a-4c47-90f3-f9c45e35a6c7 CLINVAR:1802530 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b9890b1-0fb3-4479-9a6e-3d01f6aceac4 CLINVAR:994542 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee5b8dbf-2d9c-44b3-9c3f-207261de9c6c CLINVAR:994542 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f847211d-3482-4e5d-96b9-5a677da16fd4 CAID:CA386972790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 815e4631-0a51-4220-ae23-19fe71627f2f CAID:CA386972790 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19902e5f-ecc0-44cc-ab8b-0e101fc9ae46 CAID:CA386966029 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15be6964-477f-4fcd-8f82-d8f9e73adba1 CAID:CA386966029 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb67664-e5e1-4621-93ad-76c3894eed45 CAID:CA386966026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85ec7ad4-064b-4930-96b5-cb9506b1c754 CAID:CA386966026 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a9ccb2-168c-4ea4-8957-90056d6c5da1 CLINVAR:2758582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a6f59ac-6d89-4eca-b3fe-a44cb508410d CLINVAR:2758582 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c9f74ab-b954-4d9f-8326-ee5464628ed1 CAID:CA1310372689 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c69f4041-9d15-4421-85b0-71591f9081e2 CAID:CA1310372689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a452f6b-bdb6-4324-b5f5-aaaaf78dc3fb CLINVAR:1700663 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0224030-fa89-4565-b288-08b76c48a47e CLINVAR:1700663 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4c584e-4840-4356-9c98-e41466dd39bb CAID:CA409108558 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d9f9dd7-53af-4f08-ba80-e51b6905a32b CAID:CA409108558 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a18d049e-e64e-42c5-acce-013d087a3a60 CLINVAR:143710 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6f8608a-48d5-4316-b979-70343c7a6d95 CLINVAR:143710 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd35daf-fbb8-4d58-9aff-1d3295590b35 CLINVAR:252226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bd8a6f9-a662-46e8-bf70-9ab73a5d1d32 CLINVAR:252226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562d6ce0-26eb-4504-8fe3-e8936533f0df CLINVAR:252227 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3259bbd2-5261-427c-8631-818eec0a3448 CLINVAR:252227 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ea6dfc-25e5-4584-969d-f7b5d9f05284 CLINVAR:251118 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a62c900-f9cb-4016-b73d-6b374f25e6d9 CLINVAR:251118 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d35de9ac-bccc-4884-bdd5-09135df5eda0 CLINVAR:251119 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f398f9f3-ee56-4997-b88b-8a41dbacc781 CLINVAR:251119 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5f8f81b-a301-4f8c-a4fd-a4c8923b31a8 CLINVAR:889190 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bb0a6e7-3e88-4ea3-bb04-bdcd62f5c494 CLINVAR:889190 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f93370-22eb-4d23-99b7-656861b509cb CLINVAR:920443 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d13465c1-debe-4226-9d76-9c88d2d49e6c CLINVAR:920443 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 383d01be-e2cd-413c-b391-3fd614664603 CLINVAR:251909 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 272d8c1b-adf1-4e7a-883a-b358d5dfab4c CLINVAR:251909 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f23609ee-76c3-49a3-a33f-ce087f6b970f CLINVAR:987818 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7de48860-f107-414a-882b-10b4f992dddf CLINVAR:987818 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cf0a8f7-8da9-498b-bd15-e8ad06d80c2b CAID:CA409108532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1712df95-f855-4a54-8136-aa00ce44b107 CAID:CA409108532 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5eb7766-859a-4a84-81cf-d1ef3441c1ec CAID:CA2573106208 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff84c3e5-6d97-4f7d-98e1-8f02d8f55495 CAID:CA2573106208 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50e503c5-af2d-4877-a04b-9913c1a88139 CAID:CA4239711 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7926fa8f-8e27-428a-b805-22570289157d CAID:CA4239711 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eec9127-9ce6-4651-83b4-d1881ca1c547 CAID:CA367400485 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74d4c032-b091-40aa-8bc3-3efb77bd9519 CAID:CA367400485 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8d0d3c7-4a95-46e2-b9e8-2f48c3e8a6ee CAID:CA367402020 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b1be243-9946-4902-aac1-33bec67350ee CAID:CA367402020 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8395764-adb4-4428-8fd2-ded5537412c0 CAID:CA367403047 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4c68820-e110-46bb-92df-516b24dcc761 CAID:CA367403047 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d5aaff3-66fc-447a-ba6a-dbe78b97f7cd CAID:CA367403045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7dca5d23-cfbc-4f0b-aac9-925b290e2878 CAID:CA367403045 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1324fd6d-434f-4bf5-8f19-21f107f83a40 CAID:CA367403035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01340f36-5827-4d46-81c8-8f3a78a183bd CAID:CA367403035 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f611759-f1ad-48a1-9518-16a45d2a2096 CLINVAR:2500039 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9a16826-ef36-4eec-b31e-16769a72a0c5 CLINVAR:2500039 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e8d7c4d-7f59-4743-93a3-141cb88b9a20 CAID:CA367403041 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee7c8b4b-2829-4e08-a2c0-829f34a55eee CAID:CA367403041 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e5ae6c-6a27-4e8f-acc9-37047f3568db CAID:CA367401329 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe89d86d-c301-4e07-993c-2fff0dc96d6a CAID:CA367401329 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f3e531-e718-43f7-9db9-37aefc8b4813 CLINVAR:447385 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b65cd457-0889-43b5-b169-0813de4c44d2 CLINVAR:447385 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49333110-a4d1-4545-a31c-c6a9654d9aee CLINVAR:3383915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9969896a-4ef5-46a6-8295-a5c021a7259a CLINVAR:3383915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45be3e2b-afcc-4dda-9c21-da75d1bf32a7 CLINVAR:36175 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acf64901-0f7f-4297-a644-837004a24f94 CLINVAR:36175 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ee7862-c730-4d00-ae1a-e1526802e10f CAID:CA367401225 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1341d1bd-3d9a-4395-aac9-f82a523856cd CAID:CA367401225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66902d88-1f83-4e30-be6f-e960c0e941aa CAID:CA367401223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56c4b9a9-33d8-4fc5-add7-bd4ebac9d4aa CAID:CA367401223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7f15bad-ab1a-4249-bb23-36787980ba62 CAID:CA367401222 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ced6d1cd-4c51-4ce9-b174-5dbe9037db8a CAID:CA367401222 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 071d2eba-96c8-498b-b49a-76cf76ea4a02 CAID:CA367401656 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f03c6c48-3a96-433c-bfb7-90e4bc0cf098 CAID:CA367401656 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be9cb87b-b938-45ec-a041-ccaa549a4f74 CAID:CA367401662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a121b38a-f2bc-41d8-b611-1e0e3b556509 CAID:CA367401662 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd54c463-a735-4990-a31d-71a5319c3e46 CAID:CA367399044 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcd07b25-7fac-4238-a040-0d97c2017467 CAID:CA367399044 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9178ceb-efb5-4d55-afb8-ae2b0de2bf32 CAID:CA367399038 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad741ed0-3c85-4f25-b9ff-6f98e4809b48 CAID:CA367399038 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e49eda7d-cca8-4820-b2c2-1f82023cd51c CLINVAR:311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3151d413-2f36-44b8-bee7-010df7d186f2 CLINVAR:311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0a8ad1b-85ca-4921-926e-7da315ab17b0 CLINVAR:100330 biolink:causes MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8dadb12-a8b1-4270-ae4b-4f017954879d CLINVAR:100330 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871bc354-4846-472c-a2af-b22724bf618d CLINVAR:100177 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da5bb17f-648c-49b9-a5df-ea5eda2511b5 CLINVAR:100177 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b8fc013-3c77-48fe-92c4-a0842c98a240 CLINVAR:100281 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5dd8bf1a-ba01-42fe-ba0e-e7c4b0b01eda CLINVAR:100281 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad0b418e-c4e0-43ef-a7ed-dd4551a27b5e CLINVAR:11500 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbe76f23-af0c-4a85-913f-92dbc304e46b CLINVAR:11500 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b73c88e-5a4a-44e9-8dba-85d751a1acea CLINVAR:9572 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64e472ec-3154-44e3-8e3c-9cbfe4fa455d CLINVAR:9572 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9de2ae-43c1-41d2-a445-f0aff53500a2 CLINVAR:155882 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e3391d7-5a7b-4755-bbb7-410e96e99f80 CLINVAR:155882 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0913003-58a3-4e9e-bce4-6e7df1257d00 CLINVAR:36342 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbbb27c5-d2a4-43bc-9e87-44f63e6a2517 CLINVAR:36342 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd8b0d6-5e75-4196-8c99-05ad4d441314 CLINVAR:9557 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 589c7a3b-08f1-4789-84c1-ff215ff89f43 CLINVAR:9557 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fba720d-f6c9-4047-8faa-22ec6c0b617f CLINVAR:188785 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f7c3961-2a50-4b4d-9309-148fbd22e8d4 CLINVAR:188785 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb9c0d6-69d0-4c6d-99d8-969f0caaad35 CLINVAR:972798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91a85605-66c1-4e38-825a-3dfb5b4e5973 CLINVAR:972798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b23ba13f-6e67-4cb1-934e-5fb22e0de7ba CLINVAR:3390364 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15d923d3-8005-4682-9526-bc3f732d7364 CLINVAR:3390364 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31421138-e44f-425d-86e9-c19c9e242f9e CAID:CA414915806 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e626af26-d62c-4bce-87ce-aec171db8b3e CAID:CA414915806 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 944eb4b0-e2bf-4746-a3e0-638a45bd2428 CAID:CA414916092 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5451510f-3985-482e-9e6c-7e7f0463ed37 CAID:CA414916092 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c42a75-2835-4855-a1c0-bf813ecacf59 CLINVAR:627143 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a8e33a1-654b-48c3-b467-ee318e16678b CLINVAR:627143 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b9399c-5352-4b63-9331-a28315b77a65 CLINVAR:225114 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3e48fb2-47e0-4ef6-b7cd-466ef7af760f CLINVAR:225114 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4837e30-dbe1-4f82-92f0-d1d257bb2391 CAID:CA414917900 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78405e8c-38a2-48d4-9fa1-35e0dcab2200 CAID:CA414917900 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d0c251-44ee-4e66-b2b3-60a1b935e452 CLINVAR:798429 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a523731-a515-480b-8bb6-f8d78da809e9 CLINVAR:798429 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9216fd1-4282-4b72-b932-a49b1aa2e0c0 CLINVAR:30005 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58189a3a-8f9f-4770-aee9-a0c197f42dfd CLINVAR:30005 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d20756c6-d41a-4bfe-aae5-b97b7cea5884 CLINVAR:586011 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98194f73-bf9d-4cf8-8c56-2100edac8226 CLINVAR:586011 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3b70459-dda1-4f10-a826-6e17abe4bdc0 CAID:CA409110117 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12db39e5-8ad4-449f-a2c4-9e3a0acdc009 CAID:CA409110117 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c87ea00-ad8b-4aae-8704-53b39ddaeb37 CLINVAR:251736 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ce59d2d-ed44-431d-8332-abfb52ef1bdf CLINVAR:251736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bcb8757-5f7d-4efa-88f7-55b0c21f5fef CLINVAR:251479 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fdc3560-9a38-449f-bdd8-8e0d6d81ed9f CLINVAR:251479 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 320cbfce-18f7-4df6-83ef-c63f7e39b200 CLINVAR:9550 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1936c1d-643d-41b6-8a4e-f34b3cb9fa3e CLINVAR:9550 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9a16a14-a58e-47e0-8d22-dcbfa786b001 CLINVAR:40158 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a048ce00-583b-4fe8-93e2-2fbb2f787708 CLINVAR:40158 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1855fd84-b04b-4186-a2e8-f5d39eb4f05b CLINVAR:9568 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52bd7ea8-220a-4077-83ba-0b27d0414046 CLINVAR:9568 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a6caad-5394-47e7-891c-502619bd10e6 CLINVAR:631469 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 263a0418-1700-462b-97cb-2d74ab45de4d CLINVAR:631469 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8150147-00f5-4153-803c-86e5255d2c61 CLINVAR:689913 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1a9ef1d-ef50-4eb1-abf9-a164687fecf0 CLINVAR:689913 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56269195-3ea2-488e-89c6-9e8843504c95 CLINVAR:692466 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73c9b0bf-7e7e-4589-9e63-c9317ffc0968 CLINVAR:692466 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a677a57-5f0e-4f5d-b18e-859cfaea383c CLINVAR:439962 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d0803b3-4e76-4596-84ca-8e88c7f6b2e2 CLINVAR:439962 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e93cf38d-c45c-41ea-a192-80ab6855b273 CLINVAR:692585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd5c1a73-284f-41fc-a2cb-901b2e4a9b9d CLINVAR:692585 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f61e4dd-7d27-414e-950d-1cafee575b69 CLINVAR:9656 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c7e5526-f8ff-492b-924c-c42db17dc7df CLINVAR:9656 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a99665-9867-45eb-bb9c-009d185abf72 CLINVAR:370050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58dc211b-7e30-464b-be96-0355b1882a82 CLINVAR:370050 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf3e309-e898-46f1-a1a1-bc4a20ac2489 CLINVAR:692961 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d80f59b-37f3-4ae5-b4e7-70f332f5084b CLINVAR:692961 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c984d8eb-d5db-4eb4-aa56-df869788a79b CLINVAR:551295 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8252cdf6-795a-4d4d-9624-6a26907f0934 CLINVAR:551295 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b79f975e-06ec-4e28-91e4-5a68ca3ebf5b CLINVAR:2149933 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfba80a2-367f-4c8a-be34-27c6fe730299 CLINVAR:2149933 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3858390a-082a-4763-b1c6-b1d60a37b2e1 CLINVAR:865841 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a13613b6-31e2-404b-a9f8-e439f4771044 CLINVAR:865841 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a730fec-3241-486a-8be4-e70466101580 CLINVAR:98823 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b8f52ec-9a39-4723-8355-3afda904cec4 CLINVAR:98823 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ab1a34-be19-4267-a190-908060c33d73 CLINVAR:978979 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1597ac6a-fb7d-4568-bed4-5c6f52f05e8e CLINVAR:978979 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21fd2b0-b6d9-466f-9ef6-7e11dac97b28 CLINVAR:968598 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a58608d9-6ee5-4c2a-b877-4cd1efebe85a CLINVAR:968598 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6015aa46-9ad0-4c66-8449-749549023d25 CAID:CA902401 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f5be24b-ad23-4527-b56d-8e024d9eb45f CAID:CA902401 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0410252a-3e00-4145-84c1-771c73f1eae8 CLINVAR:560496 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5ca8095-4d66-4375-b66f-5a6706b242ba CLINVAR:560496 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33ca92e-98d8-4d52-b1cb-9590d51b1c46 CLINVAR:556178 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60510fbe-a659-4bad-9f7d-34be9818e5ca CLINVAR:556178 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3352cb8b-06e9-478e-bd5a-02c8de5b73fd CLINVAR:98854 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21fa9788-e744-4274-8b22-7c21494e6dc8 CLINVAR:98854 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caa8b123-c378-4916-80bd-81ea03fd5fe9 CAID:CA340744926 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e1ab161-4132-47be-a6c1-c1a5227ece8d CAID:CA340744926 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a0e804e-9f0d-4d71-af11-f8c25a2517a2 CLINVAR:942448 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a027993f-1ab4-421f-9a72-f38cd02b1d92 CLINVAR:942448 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f20ee642-85d6-4ae7-8620-99fc3bb9918e CLINVAR:870346 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eaa44265-70e5-4e19-acae-c75317ce466b CLINVAR:870346 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b34f0a13-1578-45db-99f7-07c7eb64b8b8 CLINVAR:865946 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b83338c-0c41-4706-b18a-6d489ddfcb18 CLINVAR:865946 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5da1539a-2e8f-4313-9981-d4e1c8766ce5 CLINVAR:13116 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b3ebf52-4139-4e9e-ae0d-a1f90e3547c1 CLINVAR:13116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d755a0a8-df25-42e3-af58-6a2607fdedb7 CLINVAR:521371 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2cc5173-2716-489c-ac36-d1b1fba5e203 CLINVAR:521371 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dca8b7e3-32e7-4aa7-8a3c-97635c0e58e0 CLINVAR:464114 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f7cc354-7327-419a-b523-00a5c5096020 CLINVAR:464114 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af0ba3d9-e0a8-486d-8fcf-ac4ebffe934d CLINVAR:1452968 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d72bdbd5-f4a9-4f51-b2cc-1545dc5ed320 CLINVAR:1452968 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 740f12b2-9807-412b-adc8-669d698d5045 CLINVAR:18292 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1780818a-7b9f-4d2f-8b1d-159b15c30d8d CLINVAR:18292 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d306df3-c368-4d82-8ece-57e5e41c471e CLINVAR:338429 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c3a69a9-607b-4575-8623-ae61bfe2b8a2 CLINVAR:338429 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c05c8d7-bbb6-40ff-97e3-638af18ae917 CLINVAR:129237 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61f6f80d-7272-4c33-bc48-5f6a302bc0ac CLINVAR:129237 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14045be8-1618-4d5e-b2ab-5fae190ea94d CAID:CA409110424 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4c539d1-464b-4523-abd3-8e31bbbabdb2 CAID:CA409110424 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a854867-8629-4893-b9b0-4a0dcaea2393 CLINVAR:811 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd9e66b8-7449-45b0-9501-a7b58a515dbb CLINVAR:811 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39da4e6b-890e-4043-bfaf-8871ed4f773f CLINVAR:598113 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 067b2cc9-7c3e-4011-9957-eb4f864a4027 CLINVAR:598113 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 160fcede-78fa-4f88-a300-5a488343571d CLINVAR:4022 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 116c41c8-4674-4615-8f97-2a03909965e7 CLINVAR:4022 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb49e9f-82ea-4246-abac-b0c74b8dd9ed CLINVAR:188484 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4539b5e-c55e-4814-bc4b-f7350862f8c9 CLINVAR:188484 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f467c23-03f7-4a8e-a115-ab083a2e82e7 CLINVAR:375778 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2568ef12-82ca-4a3f-9380-7f6cb0a12e2b CLINVAR:375778 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b05506-3eb0-41ef-8f8f-511021ddf95a CLINVAR:569548 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e4c66a2-b967-426f-af88-1d7bfd7d5ca8 CLINVAR:569548 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e6f2a01-8c48-4903-8d0b-bcfc3ba33ba1 CLINVAR:439360 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d28f50f7-78d1-4722-b8b2-10fa30691b59 CLINVAR:439360 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a164dec-771c-4807-af98-672d97e086ee CLINVAR:464139 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd66068e-0573-4c2b-821d-f4f0a223f216 CLINVAR:464139 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2350cf06-b624-4e62-b76a-84950a29e551 CAID:CA915940544 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1a7c4ba-63ed-47a8-8f7c-4824286b8cf8 CAID:CA915940544 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c675a1b5-cf55-4301-8d6e-f3d11b84e398 CLINVAR:420100 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5285b4c3-1375-4e37-bf40-6da6ac865c37 CLINVAR:420100 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435c840d-65f8-40f6-8a8a-741ec541e0dd CLINVAR:280863 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdf6166b-656f-4480-a359-f9ba65e2b7fe CLINVAR:280863 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00887e10-81a2-4203-9340-6ba8cff8e191 CLINVAR:817462 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e85d12c2-6f4c-49f7-adb8-4cde13e84253 CLINVAR:817462 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99c4a96-4fff-45d6-b0e7-a9c3c22611fa CLINVAR:12881 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ca20045-6a0e-4116-982c-78c6b7abb8d8 CLINVAR:12881 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b10ad3-770b-417d-b7db-0a0be1604ada CLINVAR:1423525 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7986708-33f0-474a-ac86-bb4f1f9f2c1e CLINVAR:1423525 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 109c4007-248d-4af3-a628-9eed8b69f27b CAID:CA2581998917 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9428a31-f73b-403e-a9ec-67230ddb47bc CAID:CA2581998917 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cbb4096-a3b7-4f90-af30-1b169f58b7d9 CLINVAR:428153 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1ff6da9-1581-447e-9a25-0dfea86db4de CLINVAR:428153 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0d706ec-5e64-4e00-ac11-562559afa27d CLINVAR:433598 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44fca3c7-3405-4f1c-8fa2-101b3e4c117f CLINVAR:433598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53709a3d-c305-444b-91b9-c2f658135e67 CLINVAR:9213 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf26ab24-065d-4168-a826-0ea318875f92 CLINVAR:9213 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d211761-89df-4b84-8fe8-a4f312873dc4 CAID:CA409110369 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96c9476f-d5c1-47fe-b8e4-7676d2e431ab CAID:CA409110369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e899112b-0ee2-4c1a-92e2-17f3ae77f6ff CLINVAR:1687103 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f46de25-c8d4-47f3-834c-d4307d5fd40a CLINVAR:1687103 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ec1172-de37-4f74-b9df-a19abfc52590 CLINVAR:18033 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7880189f-4acc-4d28-bb17-6028c223989e CLINVAR:18033 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4a3b42-6781-418d-9b13-4d7fad522a02 CLINVAR:18020 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 895e5b7e-a6ff-42c7-b7ab-fd8b87f4d84f CLINVAR:18020 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32f3e03-cfe9-432b-b5c8-f0cd08d58d3d CLINVAR:18007 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83e84c8d-c82a-4e2c-aed2-ba9309f05262 CLINVAR:18007 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b240856-4542-4ba7-bf93-55ffed3d9dd6 CLINVAR:626996 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 080f6bae-f259-48e1-b5f6-1b04004d7d0b CLINVAR:626996 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae3ae53f-a395-46eb-b824-4b670acf853d CLINVAR:18032 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d95bf2d5-8d28-4d37-8945-2301c0181b78 CLINVAR:18032 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851c0272-c0d1-46ab-83b6-5fcb06b3b628 CLINVAR:2734038 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7970e9c-6c2d-49d6-9f6f-451a9341860d CLINVAR:2734038 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa64d68-87ce-4773-a358-1e018a0ec22f CLINVAR:2505626 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 112cd67d-2926-48db-ac8c-fa419b7cdd31 CLINVAR:2505626 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d7db37-1bd0-455f-8aca-e5706b98856c CLINVAR:804125 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c7e1d1f-8d19-48fb-b8e1-4cfa266e92e3 CLINVAR:804125 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2fa5ba7-b17e-4609-bf0f-51709a063fb2 CLINVAR:160202 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f68ba096-2b4c-4507-8ff6-2dc4255bdc60 CLINVAR:160202 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45dc5591-e5ad-4e72-acbe-86ea01c4c510 CLINVAR:200921 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 257aecab-9f35-49ac-9dbf-8f1c18f8fae7 CLINVAR:200921 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73f08e0f-fb34-4b05-9488-9f54ae51fb5d CLINVAR:183124 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0c266c6-77d6-43fa-bd6f-e85fe6bbbdf8 CLINVAR:183124 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2e9de5a-46ba-4000-a43e-2af028580af6 CLINVAR:252012 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e8030f5-f28f-4f82-b9b4-b2123ebd970c CLINVAR:252012 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8247f0ac-4707-44e4-bd93-30559b8a8c8d CLINVAR:441220 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2051647-c7cb-4072-9f1b-c6205e8424aa CLINVAR:441220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6377e981-f4cd-4a24-a0d1-95baf99226ee CLINVAR:252014 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ca7561f-6949-448d-a015-7ca163c90676 CLINVAR:252014 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e237126-0978-4de4-9ae5-4f156c43430b CLINVAR:11909 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eff2ae84-1cbb-4fbe-bee1-b9f53feb9eb4 CLINVAR:11909 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 948ec04d-3ccf-4b37-8a0e-eed1b77e54e1 CAID:CA2573332225 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7824628-a262-41d6-8d5f-1ac17ac25f43 CAID:CA2573332225 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b9ca0fd-f624-4f22-8a9e-aa3ba304b046 CLINVAR:11908 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1904c5b3-cfbc-4ffe-84c3-f30f4076756f CLINVAR:11908 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4fa7f28-f9e6-43d0-ad66-b67ecaf23845 CLINVAR:11910 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddc30e33-07c2-4eb9-bd77-a5ba01bda97d CLINVAR:11910 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56bfe6bc-b86b-4547-ab29-98e3139c068e CLINVAR:36211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9e71970-aa5f-4060-aa69-cef740ad4223 CLINVAR:36211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac1e17c6-7da0-4684-8caa-000aca7e79fd CLINVAR:931741 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e962b7e3-51f5-4d28-82a7-058525a86133 CLINVAR:931741 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2173550d-2c28-462b-91ef-b2831950c5c1 CAID:CA409104248 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ade77704-a780-4b4e-8991-960658e99afd CAID:CA409104248 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025557e4-7d44-48cd-bb27-360de2684026 CLINVAR:447400 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3b996c5-7b8f-4b4b-8fd7-5c7f6d234a58 CLINVAR:447400 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b9ba49-cd6e-456c-8300-b92f4658e364 CLINVAR:1031829 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e03ba8ea-74ee-488d-b4de-280833d65853 CLINVAR:1031829 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a13428-4a35-446a-887e-c74b14504801 CLINVAR:427190 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47d42e75-3eaf-4015-a2c3-9eecce7a2c78 CLINVAR:427190 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f250f2ef-1b7b-496d-8440-fbbb30f96596 CLINVAR:801630 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee5f101a-1a36-49d6-9db1-1ce92de0e58f CLINVAR:801630 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af156cc-db25-4546-9e7f-ac94607b1ebf CLINVAR:431989 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1977a77a-d6b0-4108-9213-a782fc11774f CLINVAR:431989 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a0527b-6781-4e80-b5ed-c93651ccf37d CLINVAR:654469 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3472fed7-3cb0-48d0-a640-79e4d7cc638f CLINVAR:654469 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a491c029-fde9-44dc-89ef-420338b0a646 CLINVAR:2136532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5502174d-73eb-401b-9458-d6e5a95c4e29 CLINVAR:2136532 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 542763e7-e1d2-4648-b286-cdda83df83cc CLINVAR:812824 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4922d1fc-35d4-474a-8c66-258e7a3eb33d CLINVAR:812824 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77e89ab4-aaf0-4bf8-9d2a-1002fb6bfdee CAID:CA367403885 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce4fe749-665a-4f39-bfbe-1afa049ad1e3 CAID:CA367403885 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4d32adb-3917-411a-823d-27ccec62f672 CAID:CA367403876 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 878baf59-70c8-4aa2-bc1e-ec65cb8e5d53 CAID:CA367403876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a81d009-be00-4f63-adc3-e2b5433b2804 CLINVAR:1405428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e9aa51c-76a5-444a-bf98-6de26f0235cc CLINVAR:1405428 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9116408b-99ac-48fb-84e0-d95c646f465a CLINVAR:1676825 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d22ac40-ebf2-4d77-9c84-c505b93b13f1 CLINVAR:1676825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 587f07b4-53dc-4ba6-a935-4f0f959129d9 CAID:CA386960416 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0587e05b-3078-4072-abcf-3275d566133a CAID:CA386960416 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf53245-31bf-40f1-8783-0e29ec8a13b4 CLINVAR:3393497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 857371e9-e075-4bdf-97ca-2489eea0c9e9 CLINVAR:3393497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dc96d9a-2dd1-4427-8c92-681784067f1b CLINVAR:1761584 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b213b69-d2ee-455f-9d1c-a92287b5f51f CLINVAR:1761584 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3056856-4453-4dc3-8896-108e2c1945ca CLINVAR:1679313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fe6658d-88bb-4c9f-919d-8f71a26700d4 CLINVAR:1679313 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 005c7adc-9c20-4c41-9b70-0092b56be78e CAID:CA9870528 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e2e958f-7c12-46cd-8d2f-e538e6eb0467 CAID:CA9870528 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26aa8e08-f6c9-4b7a-997f-1a3aec639bfc CLINVAR:425882 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55ed1b4f-312e-4193-bfc1-7938900ecaa0 CLINVAR:425882 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf434d88-3ac1-45e3-b911-9b4a36ab8ff3 CAID:CA409106085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d6ab77b-32d6-4ccf-88ec-703055b06124 CAID:CA409106085 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b64ddfb4-e99e-42ce-acf6-a54ee6b66a06 CLINVAR:1399408 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 633a500a-77a0-4c49-b207-80f207d332d7 CLINVAR:1399408 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a01488d6-0938-4928-a6ab-5a50229c2f98 CAID:CA2573320359 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a394c05-0ae7-43df-beb6-d8a51a0ab1a8 CAID:CA2573320359 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2956f1d7-d22c-4ea9-88cd-ade67933924e CLINVAR:812825 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abfe90fd-3c5a-4a00-9d92-4373dc33214d CLINVAR:812825 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 940e1855-ac0a-427a-a940-65a61aee8181 CLINVAR:425892 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c13a7fd-5eb9-4d76-a5e5-52842d00011d CLINVAR:425892 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 267cf900-8042-451f-9a04-32e15564df1a CLINVAR:812826 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4013f103-bf8c-4b0f-819d-c3338946317f CLINVAR:812826 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be1a8183-492e-43f6-8009-d5fa8daa57b0 CLINVAR:425895 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4d8be90-89b5-4be9-9f06-e1ce64c705c3 CLINVAR:425895 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7fbe76c-fb4c-4f92-b8c3-73d95aa9a2ab CLINVAR:65961 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef01bd7f-5b84-41b8-b90e-c4366cbd0cbc CLINVAR:65961 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f380582a-70d9-4bad-bc9c-bbf58871a38d CLINVAR:65923 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c79587dc-b873-4be2-84e4-2d2dc5601193 CLINVAR:65923 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19aea111-a4a2-48fc-b1b7-f8d9b68292c1 CLINVAR:328993 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 940802bb-85fa-4ae6-aaff-af4844647fa4 CLINVAR:328993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1b3ab73-a864-48b4-b16f-06afc9ed1b61 CLINVAR:212104 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd1293b3-2bb9-4eaf-a52e-bb7f024e165b CLINVAR:212104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5936a68a-e3e1-4d7e-a93e-fffd827961c8 CLINVAR:651289 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4cc8ea2-ec6a-4365-95f5-46f87d7f1ffb CLINVAR:651289 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f5fafd-25a3-4906-af3a-0375fc5efc82 CLINVAR:571399 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 960f691f-b466-4dcc-a160-b55f712033c1 CLINVAR:571399 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a89121c3-4575-4f65-a583-7ad9d306f21e CLINVAR:425897 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9fee548-2168-4d68-8eae-89357ffedd6d CLINVAR:425897 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e05b09d4-5b65-470b-9980-80909b19faf5 CLINVAR:812827 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f141215-f2db-441c-a10e-ef0c2c6705e1 CLINVAR:812827 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d769aab1-950e-4427-add1-61d8ec990ebf CLINVAR:425905 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 011b6197-55eb-40b8-962c-5a745dd08e7d CLINVAR:425905 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e372dd2-dd40-4bea-94a8-785cb3e06962 CLINVAR:10573 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff828a35-5dd9-4825-85e3-31e68dbd3e7f CLINVAR:10573 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e15f4b4-9a57-455f-82d1-b621d2373cbf CLINVAR:811516 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef5b8173-e9d8-48b4-a12e-9f20d1708553 CLINVAR:811516 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ae45a0f-1628-4437-832c-9b914ab2c66d CLINVAR:140555 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b23c784-3dc3-400b-bcdd-ee9530086bf3 CLINVAR:140555 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f476bfae-d9df-4cde-ba10-8028b4cbb7d6 CLINVAR:2166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47f150f7-6585-4209-b1e9-48386f0c77d0 CLINVAR:2166 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a04ac69-2c59-4f27-ab24-7e7f88eeaf0c CLINVAR:282006 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45249cd8-d1d8-4cff-8ad9-3a94f41f68bb CLINVAR:282006 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd6923a-0448-462b-b523-97d5c533ae54 CLINVAR:627324 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4017739-b67e-408e-a324-4bc3e26417e2 CLINVAR:627324 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a6b6355-06e5-4301-9069-db3280065c8c CLINVAR:195634 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 595821fe-1160-4b91-9d2f-dff7aaf0e870 CLINVAR:195634 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80edc27-22af-44a7-93d1-d0012d3885ae CLINVAR:439677 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00155c79-60dd-4756-b18a-dff04696c63a CLINVAR:439677 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba648b7c-3ad4-4451-afca-461893216014 CLINVAR:96688 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b2a1ce0-3831-4dbf-8820-7990dd0b2a87 CLINVAR:96688 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fde436d-83c3-4db2-a335-5f2418772f4e CLINVAR:468825 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e4caab7-e2fa-4aa9-be4e-94e69b92acc3 CLINVAR:468825 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba083c74-b231-4f74-8647-8d7894a6e31b CLINVAR:286467 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de8cfd8f-2948-4afd-aaff-91d87db35122 CLINVAR:286467 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c67e1654-5a8c-4728-8690-076d344fcaf4 CLINVAR:284518 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efcc7073-e667-4f26-aa84-94867b6b8e73 CLINVAR:284518 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55205e53-868c-41b4-abe3-a9b02489f87b CLINVAR:286592 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c6b767d-0488-4951-9baa-aa0891c232ca CLINVAR:286592 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68cf4a4b-8cca-4a61-a22d-7bf4bbf4f3c3 CLINVAR:17615 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11a5f33d-c33e-4ea2-8ee3-e3d903913dca CLINVAR:17615 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e4350b-8f28-46ea-917a-a074a99da820 CLINVAR:496977 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4837310d-3964-4e05-863d-01bf733c3c5a CLINVAR:496977 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b7bd6b0-f22c-4de9-a5aa-4dc3e1a339c3 CLINVAR:92411 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ee513ad-e5de-4e20-862b-659886a993e0 CLINVAR:92411 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae126d0e-14be-4d9b-9c98-7c02854bdfcf CLINVAR:1072479 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 086996c4-1fec-438c-90d1-8535b669cede CLINVAR:1072479 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e6432e-196a-481c-b57b-92f3ecc78d61 CLINVAR:217159 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6c86c72-13e6-409e-90dc-6ae05c8aa5ea CLINVAR:217159 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06cbda50-bd9a-4eea-9ec8-36fc55577f57 CLINVAR:282623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3c24afb-812c-4ba9-8dbd-38d925a10def CLINVAR:282623 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b66e781-dcd1-4c83-870d-612fac3620cd CLINVAR:284946 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8701cbcd-5023-439e-b487-09a7a3e23b4a CLINVAR:284946 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f14cef-af3c-4c50-8c26-4eb4aba8e657 CLINVAR:594086 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fe67d9c-dd79-416b-b544-0bc5b8a7d36a CLINVAR:594086 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ac1d67-6551-4629-9f17-ff380b677a5b CLINVAR:452720 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 841d1609-9637-4681-9135-15795549b2cb CLINVAR:452720 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf7a7382-a21c-4907-a5c3-a6d6cfb3fe51 CLINVAR:37202 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3de568aa-6935-4131-b2fe-9e48caf9a949 CLINVAR:37202 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8f1ca35-0681-4eeb-95cd-32a6c2d2e7cd CLINVAR:497670 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11bf22d8-481c-4348-9f76-0cfea00ac49e CLINVAR:497670 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e1b76c2-93b3-4f43-a38c-43da51578083 CLINVAR:198031 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c673c830-6a2e-45aa-ae9b-e3fc861b671b CLINVAR:198031 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac6dcc30-0d36-4b1f-b578-cecf510e690d CLINVAR:497672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3318a584-433e-4220-b816-fa0d3896d85d CLINVAR:497672 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc9fef07-e592-4bf6-83e7-20450986bf22 CLINVAR:9437 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce330612-bb03-407c-9534-5d9ada3ca136 CLINVAR:9437 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fee73e99-9a39-427b-af52-5b29bf0b48f6 CLINVAR:978048 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e3ccc0f-8ec9-4823-a251-885a67756f43 CLINVAR:978048 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d0e6d22-4072-4bcc-914c-d25a6a0445de CLINVAR:523842 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0906caa9-54bf-4d7a-aeda-2f665f985d95 CLINVAR:523842 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5fe2237-62bc-4a0e-ac78-795121a8cfbb CLINVAR:284504 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c66b7bdd-0bc0-4e63-a2e8-5944b2752066 CLINVAR:284504 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10c4170d-a81f-4a9a-88b4-a9a81cf4245f CLINVAR:370474 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aee22b5a-7894-460a-b482-2183d5bad935 CLINVAR:370474 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b4442e-ea87-4608-b28f-bc8f35ea5963 CLINVAR:551805 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bf5c106-3f66-44cd-929e-6f9d10a82099 CLINVAR:551805 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8886441-09f8-4758-b3c0-0f8108ef728a CLINVAR:8714 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0ce8e2b-e520-493b-9229-efc6d8db0f84 CLINVAR:8714 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f3ad37b-a3be-4fb4-a8ba-77d4eb276182 CLINVAR:1451826 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f818041-a391-49c7-b3ef-facd41a73e05 CLINVAR:1451826 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53afc749-bd55-4bc8-96e8-a50d6ce1a4bc CLINVAR:289650 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34c11e70-6e5b-4647-8c40-e2dac14c1094 CLINVAR:289650 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1ca521e-5021-458b-8ab4-a7d8e607bc1b CLINVAR:836267 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9ca85c1-f799-44c5-9f46-6377a794f41c CLINVAR:836267 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70d9e62b-5de0-430c-846b-4a914d899753 CLINVAR:189243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ade693ac-9637-496e-8c33-2caf8957434a CLINVAR:189243 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4014707-628d-483d-99c4-aca4c4e41f3a CLINVAR:2008 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71566cc3-6553-4e6e-9705-c5ee71d12b9d CLINVAR:2008 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23eb25e2-a74c-4d06-acf0-0dfa6f128db1 CLINVAR:192194 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef3ab659-4eea-4c22-a9e3-6ccba2fb6805 CLINVAR:192194 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fd26dde-dfdc-4bed-a59a-a7cc05616dca CLINVAR:652862 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 927fa7e1-189c-4920-b2fb-b1cf15f82012 CLINVAR:652862 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb4366fa-9a7a-42fe-ae11-2d65762b4a5e CLINVAR:8172 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f3111c9-446a-4a83-b57e-a35230d91eb2 CLINVAR:8172 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20cac021-680e-494c-9526-65d24ae82c2d CLINVAR:202088 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddc88687-b092-4f9a-b57e-dad383f2db9a CLINVAR:202088 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a846506c-dad3-4c1a-b2ba-b48a349d2c40 CLINVAR:1677453 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a0bb7e8-157b-4273-8f23-eb6db2cef5df CLINVAR:1677453 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 228d8584-ebe8-48ea-8c35-1d33815059e5 CLINVAR:288644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d2c342c-a722-4804-b662-7c83b144c251 CLINVAR:288644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9ce2ac-3f66-4ade-9e78-a2712cc45b0f CLINVAR:217224 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b4da167-7e71-4a0d-b53c-647daecda573 CLINVAR:217224 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 990a32bc-023a-4550-955b-4de31ec0c0b3 CLINVAR:290209 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bafbf44f-5b2a-4fd2-99d9-1f355bb105ad CLINVAR:290209 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f3d32c-f212-4fb0-848a-48b6c001a5f7 CLINVAR:94365 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e203480-7823-4bca-a529-730a334997aa CLINVAR:94365 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ddfd51d-8908-4ecc-8018-f1cf049f3448 CLINVAR:282861 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65d849b6-1f42-4ce7-b29c-5cb55f34904a CLINVAR:282861 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3599a786-93a0-40d3-9db7-dbc1da5a2f70 CLINVAR:195490 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40fdeb20-ff3b-462f-bb69-1add480cb338 CLINVAR:195490 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b914c266-f4e1-4d18-aeb4-4814ea664fe8 CLINVAR:94291 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9aa6e67-97fe-4820-bb53-65446186c23f CLINVAR:94291 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d2ab4c-02a3-45c6-84d9-afcc267fcf3b CLINVAR:936623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffb80a5d-8bb7-47b0-8146-f0403a69f08b CLINVAR:936623 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49049d60-1472-4db9-ab2d-9b766a8e2790 CLINVAR:6685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e18ec26-11de-41f1-a74d-ab1144660506 CLINVAR:6685 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbf9cba8-4260-49af-824e-c84915bebf78 CLINVAR:94347 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e08d325-0080-4b9a-92d3-e029d9b23d50 CLINVAR:94347 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32d422ed-f788-425e-9687-49d95e6504ef CLINVAR:2674990 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 947c3869-782c-49df-a3a5-3bf3f4055d6b CLINVAR:2674990 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a1bbdc8-e747-4d48-a3ee-7177d3a4f2ab CLINVAR:288647 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d11c6d11-4d6f-406d-b351-35a066b6e1b1 CLINVAR:288647 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc3cd4cd-3302-4a7a-9720-82703859aa0f CLINVAR:2734216 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7d04979-0529-41ff-9665-1153205b3644 CLINVAR:2734216 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa8c524-2f17-4a70-a158-12c7a02c8307 CLINVAR:283205 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b311579d-993e-4600-bbfe-775d06414422 CLINVAR:283205 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a25fff2-b46d-40dd-8e3f-00b4ea07a090 CLINVAR:6684 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10dbb776-4ac3-4967-9b96-bad0c058d89d CLINVAR:6684 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e857840-bc0d-48b9-906e-915ac18f1979 CLINVAR:1803708 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60220579-2657-4df3-9b1d-c9fbcc8ad76d CLINVAR:1803708 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de3ce872-1486-4712-8c94-16d12e627a32 CLINVAR:94278 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c8c2dd9-c381-4249-88e7-843439a8e9a2 CLINVAR:94278 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a29a49-1988-4047-83a1-8afb6a819746 CLINVAR:555968 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe35b77b-71e8-4929-baaf-cfe1fb28a07b CLINVAR:555968 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 894a6787-71eb-4da3-ba96-c12045088f44 CLINVAR:312 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1f1e7e2-548f-4b22-8e94-45476e25b41a CLINVAR:312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b4f1329-ee43-4ab9-80fe-39a0b38de0f6 CLINVAR:100208 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffa02ef0-72d2-4579-8bb1-89ac9d690fa2 CLINVAR:100208 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f29d645-536b-43b6-9b39-bc72a5231147 CLINVAR:813985 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8895b1b3-63a1-40e1-bf90-01fd890941a1 CLINVAR:813985 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08a91ec-449b-41e6-9f79-92c3cf448341 CLINVAR:653601 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 719740de-a1a6-4696-8654-cc00f2765f92 CLINVAR:653601 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 960c37e1-5bc3-450f-aa2a-8ef84b9acd35 CLINVAR:17621 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc3d9155-417f-4417-9bf4-7f2d71887fc9 CLINVAR:17621 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a09663-b68d-4ded-91af-ac33d944c439 CLINVAR:217151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58ffd33b-411e-45f7-b5eb-6498ba5e078d CLINVAR:217151 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5998234-ae33-4611-86b2-4c24121dc557 CLINVAR:620114 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 883ff812-8ec8-4070-b0d7-23a363db86f7 CLINVAR:620114 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 086e26f6-039b-4200-94c1-f94ab4bed26f CLINVAR:17618 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05ba8f63-c366-4fe7-ab11-f6d4079c8ee4 CLINVAR:17618 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a313b6fd-19df-4996-9611-453cb0fdaf82 CLINVAR:501754 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9932fde5-ed95-40ab-9b3a-c2ffbbac9603 CLINVAR:501754 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 917069bf-21ab-4e96-ad8b-48d866b706f8 CLINVAR:92408 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b26405fb-e4d3-404b-b5a6-518dc764b4c9 CLINVAR:92408 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38990be2-4c90-4232-89dd-fcf278264e49 CLINVAR:65693 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5dc6a3ed-6959-43ef-a330-57a010f436c7 CLINVAR:65693 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3673903-bc70-4975-8f7f-9aaf8f5aacb3 CLINVAR:197624 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49cee8a1-7c60-46c3-a0ab-bd2eb451770a CLINVAR:197624 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0044b6-cf56-43f8-ac49-a1aa6c5b3516 CAID:CA2830782976 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce24d7c4-8483-4cd4-b895-1bce7302af0e CAID:CA2830782976 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f74bb48-cd8a-4109-a707-297d18c9597c CAID:CA2582131592 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a3571fc-e92d-411d-b6d0-fbc6482779dc CAID:CA2582131592 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 849d5cbf-e2c3-4e12-bbe5-5b9b5119ce21 CLINVAR:217147 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9bced2f-e592-4541-9d6d-8cce4409b08c CLINVAR:217147 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5199ffaa-854f-4718-b073-bca3d15ee315 CLINVAR:17622 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1cf48aa-51f8-48f0-8e3e-e6808179f39b CLINVAR:17622 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4e6a5b-397d-4d9f-bf2e-ae7f8523425d CLINVAR:166790 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 766f2e96-f7ba-4583-84ec-51a7a9fb2bd5 CLINVAR:166790 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c2ff46-242a-4932-afcc-9f08375dd906 CLINVAR:283259 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a3dfcbc-df22-472f-876b-b44aefffe407 CLINVAR:283259 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc1c5529-ab6c-4d98-94f5-0496f2cf6c7c CLINVAR:289082 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 459be236-6d8d-4e03-8f65-ba6ee943a451 CLINVAR:289082 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a38ca02-f782-47a9-a9a8-8bde4be1bcb7 CLINVAR:282873 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47d78a62-5989-4cea-adaa-7fbbdf0e8027 CLINVAR:282873 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6daa4c52-aa5d-461e-a768-b4a218901ea3 CLINVAR:497182 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d509b025-0237-4c50-99a3-00aaf27384e8 CLINVAR:497182 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 935c8512-0013-4b20-899f-b8885e828762 CLINVAR:554906 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 672b2090-41ee-4b19-955b-c0d3795c3775 CLINVAR:554906 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5a4f43-de8a-455d-8296-1d9385240a72 CLINVAR:280226 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a12bf9ac-eafc-484d-80a3-c453b0127315 CLINVAR:280226 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5efa88c9-73a6-4534-ab77-33b93fdae5c3 CLINVAR:1429635 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b0ba386-76f4-4753-be60-f3dbab6e4c78 CLINVAR:1429635 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c90cae17-7730-41ce-98ea-828cab4347d3 CLINVAR:651752 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b894142-b9e2-4b32-bed5-49e9355aca99 CLINVAR:651752 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a20e9a0-ba6d-4971-98c4-75dc7e2016fa CLINVAR:499193 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6dd32d6-00d1-466f-a8bf-060ad0a1ac60 CLINVAR:499193 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43aac8f2-aa87-4ba0-b169-6a2dee89d745 CAID:CA2695237858 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ce7c1af-56eb-47e6-8854-d448e5c517d9 CAID:CA2695237858 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd5cb5f-85f0-413d-9795-25a60b095c4d CLINVAR:8712 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e46ffa8-a649-48c9-a5d3-b028ec0328f2 CLINVAR:8712 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e66e3c0c-1607-49f5-884b-11e46797e3bd CLINVAR:804100 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 780e18c8-cc7a-49f3-b87e-6f748d7755ba CLINVAR:804100 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0cd0955-af0e-48b6-864a-d687288f3a09 CLINVAR:9439 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e93050a-0286-4964-b7e6-41df071e8cb5 CLINVAR:9439 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 361882c3-0587-4af4-9806-dc8b0db10055 CLINVAR:427187 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab28874f-3da7-4d13-b588-6ee78e92aae8 CLINVAR:427187 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e9a76e3-ae38-4c5d-83be-88ef3ba1e986 CLINVAR:197094 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1ec756c-081e-479a-a998-242ffac0b338 CLINVAR:197094 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154aff59-4cda-482c-9046-1099540f4466 CLINVAR:92302 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ff2410c-c19c-4450-be2c-5eaa675cfc60 CLINVAR:92302 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25edb39f-e941-4af1-88e1-dc5178f16256 CLINVAR:1336429 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c74ad194-cab0-49cb-b23d-75c90041e3f1 CLINVAR:1336429 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27acca02-0d15-436b-adab-9785496eb00e CLINVAR:217250 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05821cf8-570f-4251-9ecf-262b675a0743 CLINVAR:217250 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8691297-8269-4670-9954-92ff6a6c6173 CLINVAR:197402 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d04af40-ce21-4a64-af92-840adbba3c6d CLINVAR:197402 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b800180b-345d-4283-8ad2-36bbf349f44c CLINVAR:2164 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 424f32ec-66a7-45df-81d0-8e4f62e6e400 CLINVAR:2164 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d26dd3-afa5-4f27-8b0b-bdb7022e0c8f CLINVAR:280322 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3af9f47-b135-4764-b466-d28a61d17403 CLINVAR:280322 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8e8074b-3f17-4bf0-8dcc-07c324b03e5f CLINVAR:370775 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe6a5c47-36ea-43af-bdf4-d193ed5cb1f3 CLINVAR:370775 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0525db8-678d-4fc8-9e28-1e0f427404a4 CLINVAR:252122 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b691521-66f4-471f-9b4c-e7813cbce3f6 CLINVAR:252122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e5bee9-060d-4334-b263-31cf735ecb05 CLINVAR:252121 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 555fc05c-973d-402b-8a72-b46f707abcf2 CLINVAR:252121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99ca25b2-3741-4b5e-b090-1f1529fbf483 CLINVAR:252132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24ab8a99-7775-4898-8beb-48293f8ef590 CLINVAR:252132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 591ac1dd-2a98-4a84-ab4d-5851d3d23656 CLINVAR:979168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e873f0c0-adcd-4d02-ac21-751a2d30a42c CLINVAR:979168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c931fddb-17c0-4611-baa2-6254e6e48359 CLINVAR:250929 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6daf323-36f4-4c19-91c5-90dbf4e81f49 CLINVAR:250929 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdee2c8a-9a5b-48a8-beac-6c39e56b5ee3 CLINVAR:407699 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7056ad8a-afaf-4600-a493-7686135e06d5 CLINVAR:407699 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40c13096-8c1f-4f27-b5dd-157ea778d990 CLINVAR:3572871 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e608cd79-637c-4e1a-805a-b00b1f0a4ec4 CLINVAR:3572871 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b070d25d-5820-49bf-a2a6-ad934ac4ed76 CLINVAR:189177 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0634b180-34f1-4a90-8291-59385f40125e CLINVAR:189177 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfcfea82-08a7-490d-b194-02601ec5dc65 CLINVAR:232248 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd523c86-25b9-457c-8a75-91d5e103d932 CLINVAR:232248 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38a3a4ea-ba55-43bd-aae9-1aff07e5dd37 CAID:CA2497029997 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8d19b48-601e-4751-8496-14b03e7cb48c CAID:CA2497029997 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a1aea72-3c16-4bfc-9785-9eac892976ba CLINVAR:3148828 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51de16f2-5575-46a5-9c96-8102c6088210 CLINVAR:3148828 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5965c09-671b-4687-b27f-14ebe6dc4316 CLINVAR:646712 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf864b6e-13bc-47e7-90b9-c488c6081c6a CLINVAR:646712 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c92bf087-2a50-4541-a851-71f2a01425ce CLINVAR:482526 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59109bc2-c9f9-43f3-be1e-9e15b0eaa6d6 CLINVAR:482526 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e80b63-9edc-4227-9b0c-16b42e0c4879 CLINVAR:135780 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 566a3558-3570-4e94-94c4-6fe6ec78e405 CLINVAR:135780 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 867a65fe-e9ba-4d5a-8895-1896822dd2c2 CLINVAR:846136 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcdb31ea-e6d7-4bac-87ad-aac079525e4b CLINVAR:846136 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab8a7dfc-c85c-4f81-98a1-f57e5d351dd3 CLINVAR:1422249 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a00e212c-5eff-4ef4-8dc9-47b3598404d9 CLINVAR:1422249 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810beb47-c2ca-4095-bb52-6cbd85b70b1c CLINVAR:420008 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a51a1e4e-08c9-422c-b940-f4b1dada174b CLINVAR:420008 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 617a1ea8-6d53-49b2-82cd-665f77899bf0 CLINVAR:857860 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8384124f-9bc9-4098-8a18-36ae15f1da0e CLINVAR:857860 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a44bebc-e149-4475-bb16-f96c79f4df9f CLINVAR:142355 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37bf4f6a-6067-46f0-8542-fd147ff1a3a0 CLINVAR:142355 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 743754e7-57d5-42c6-bd97-c381a2d31db8 CLINVAR:371636 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f70c19c-44b6-4e9b-8b47-4d816ca42942 CLINVAR:371636 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b43f59-6dac-498d-9ac3-beb1f61a23d8 CLINVAR:185137 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d72b04c1-3db4-4e1d-a66f-47d9a17439cc CLINVAR:185137 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e599a5-abbc-471b-bd2f-69973105c0f0 CLINVAR:826252 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96dad06a-6be4-4aec-bede-cc3cee99b4c0 CLINVAR:826252 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da4c765-bc84-4820-bc92-c9e392fed18e CLINVAR:407482 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7524bdc9-2877-4d6b-83e8-bffc8f08f7e9 CLINVAR:407482 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a476497-012a-47db-8875-3d6077decfe6 CLINVAR:141721 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92c0ce66-19ee-4494-a6bf-65a7e6062db8 CLINVAR:141721 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e03e93b-a900-4c9a-8ad0-c5abd15631be CLINVAR:142187 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f9af581-30f7-40ef-a279-1f04b87e35b8 CLINVAR:142187 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb8367f3-893f-4901-9de9-c8ec6a7ff8cb CLINVAR:189104 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65e3b902-481e-45be-b36d-7e2204f08dd6 CLINVAR:189104 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09fe2fb6-0348-4454-9c0b-1bb2d0829bde CLINVAR:233553 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9194d6f8-a586-4a6c-86bd-f16220366714 CLINVAR:233553 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2833a2d5-06ad-4577-bead-805ba51ced80 CLINVAR:420368 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3f9e235-6607-4f9e-bc83-50d7cfca3871 CLINVAR:420368 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc60c90-2dfc-4004-b6f1-94c5525b344a CLINVAR:140889 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09cf23e4-9c1b-41ac-bb0f-3cdaa4f0ce94 CLINVAR:140889 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb1c29c-7cd9-46d7-90fa-a48add1360f5 CLINVAR:3035 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b54cd9eb-9b6b-4c84-ae28-93b25b0a361a CLINVAR:3035 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3440bc-6a17-47c4-98e4-b51ba7f4e234 CLINVAR:186242 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 598934db-1255-488e-ba64-3dbc2290086d CLINVAR:186242 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6c6bd8-005e-4f76-9a63-329aa0922ecf CLINVAR:3021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13c9524e-3a51-47a0-8cdc-e4ec25a7ae7e CLINVAR:3021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87d11c24-497b-4709-9378-81f66c75508b CLINVAR:216024 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e34bfcbf-857e-487b-8256-a28c48401c38 CLINVAR:216024 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2f82a12-1ef6-4d33-86ee-c1834ea153f0 CLINVAR:417621 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e016847-b2c4-4880-8516-8a3be4181151 CLINVAR:417621 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0067846-c721-4aad-be23-bbb11dcb3a63 CLINVAR:221124 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d328c003-1f74-4312-944f-170a2fb94055 CLINVAR:221124 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daf584a1-2f41-42d9-ac11-16f3a465827a CLINVAR:127374 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce5fcba1-4293-44f9-be58-1da12cc9cc10 CLINVAR:127374 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5afa0068-cb0d-4a86-ab7e-1251a9dab215 CAID:CA915940463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17dc7c99-6964-488c-8d32-a4770f9dd71e CAID:CA915940463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6a6ede6-ab7f-4a85-a897-634e1aecc4d1 CAID:CA414914388 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af450d69-3f2d-49ad-a6a3-65abb0b835ac CAID:CA414914388 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 604f9b71-4012-4467-8853-ed57ba84666f CLINVAR:2123722 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 520e282b-f99d-497b-a80c-cbca4c3bf2e3 CLINVAR:2123722 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84823e27-c3a7-4c52-b6ae-30fff6ffcc42 CLINVAR:2420457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5402521-ab52-453a-855d-671fdf2f4c28 CLINVAR:2420457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e81b059e-2136-4650-bce3-b4d70c2f9786 CLINVAR:3343122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 522d577d-e897-476a-a5ef-f24a0966f04d CLINVAR:3343122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a462b390-df77-491a-8f48-cf0605ab57fe CLINVAR:3351124 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd11edb6-3e6d-43e4-89f4-bb231bbe23f5 CLINVAR:3351124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b091b97-052c-41be-be3d-638ac83f8e22 CLINVAR:897696 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa076e5d-9004-4892-a709-d327f1c63080 CLINVAR:897696 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f5fb0e7-c24d-48b7-ab80-9860ea3fdd12 CLINVAR:2851140 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3a2c3d2-497f-4858-b966-0b8d54dd716a CLINVAR:2851140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76766302-d7d0-4e70-b0a2-d87084d1f27a CLINVAR:3067798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ec0c15b-8e3a-4fe4-9015-033042366407 CLINVAR:3067798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82bf2e5c-a894-4281-b26d-8704af5c9af0 CLINVAR:2631353 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab448a62-75f5-478b-b4f0-c511e4c8b4e3 CLINVAR:2631353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4da6ec8-cd67-437a-bfc6-13093cb5c0b2 CLINVAR:2844927 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4fb99ce-e99d-4437-a9a9-79192195637a CLINVAR:2844927 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c366639-1347-4953-a745-1bc42fa33065 CLINVAR:1299484 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a87eaff-212a-4383-a52d-f8782df13050 CLINVAR:1299484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30612074-ed9c-4cfb-9fe6-0413233a7182 CLINVAR:2501756 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26c2becf-1233-42f2-b835-8578f6915014 CLINVAR:2501756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56de78c3-7aac-4d33-a7ab-fa12514068d4 CLINVAR:2799017 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3f92ee7-4db3-4e68-813b-051696db75c6 CLINVAR:2799017 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a94939bc-7feb-443c-a02b-b7ca3491683f CLINVAR:2852907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1890c80b-f2e2-445e-a8ba-cffdb7e023d5 CLINVAR:2852907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c5355c3-b3b3-4494-8e69-4024c0e7084a CLINVAR:2997653 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c28ccf2-6b6b-4675-bee1-c545789873c7 CLINVAR:2997653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce6835f-161b-4e58-90cb-52177f352611 CLINVAR:3240390 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c593960-0a1e-4b0f-850f-0b543e903045 CLINVAR:3240390 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db6e0616-e89a-49a9-b095-458788098b36 CLINVAR:2717092 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51f82559-ee68-472a-aa70-c257039a69a7 CLINVAR:2717092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3690ad9e-3fdf-4dcd-b5bb-c227678740d4 CLINVAR:2632141 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44d8bbb9-9552-45b7-ac6c-28d1485c2ffe CLINVAR:2632141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db48154-cea6-4b19-b3cc-e567de7a859e CLINVAR:3370501 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8461c298-d25b-4ce6-b04a-9ed73b047285 CLINVAR:3370501 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 031bc938-57df-478a-9300-57322348e3c2 CLINVAR:1016211 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c06a557b-1fa4-48c8-9329-56d156a5440a CLINVAR:1016211 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e524013-2dc8-4dfd-9cb0-92b543f8df17 CLINVAR:1512844 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc089801-b549-4701-9b30-7853a1877719 CLINVAR:1512844 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 616d8b62-6b1d-473f-9e58-43d4554fa71a CLINVAR:1412137 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a02395ab-4d10-4750-8c98-865dcc22cfb7 CLINVAR:1412137 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05cf11ec-d560-4d0e-b326-4eb974be13ec CLINVAR:1494340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39d44f0c-37be-42e0-8950-75bf30650edd CLINVAR:1494340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b44fca9-c024-4be2-8013-8842c8306934 CLINVAR:964573 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d38be09-fe86-4ecc-9683-597aee3c3914 CLINVAR:964573 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93598af4-8925-40f4-9628-681d4a4d7e71 CLINVAR:1042591 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1a278e9-ccbf-4e8e-a21d-b981a2945309 CLINVAR:1042591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b75c011-7617-4234-ba49-d9eed6571a7e CLINVAR:1055781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c4839ae-eaeb-4558-b348-57f0e12d7b7d CLINVAR:1055781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7ba3306-f5b4-4f09-a326-73c62b82fe74 CLINVAR:2096033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 772c5cac-af2b-417a-a35f-8319651f6281 CLINVAR:2096033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461b35d1-c6bc-49c6-a741-667436fd0a8a CLINVAR:1491076 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf5dc75c-8e4d-4bef-8aaf-2c01dd94532c CLINVAR:1491076 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b1fc74-08a3-431c-917c-a709a589c3ca CLINVAR:2758444 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e28294e1-64e4-423a-b079-f28b5823eb87 CLINVAR:2758444 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 138acf05-d3eb-4061-a3a5-ef45663b6027 CLINVAR:1515908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8e5c70d-884d-4b31-bd9f-45c76aa3c167 CLINVAR:1515908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c4f6e25-9f29-400e-aaed-e01b2f619e23 CLINVAR:2860395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c107ab4-03e1-4941-9530-7072e4a85813 CLINVAR:2860395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 972c5b3a-215a-4e5a-9a65-4c44db73910e CLINVAR:2792019 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3975c8a4-5010-4245-8226-f0903d30a58c CLINVAR:2792019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8555ace-da00-41f8-a23e-0828ed4ada9e CLINVAR:2765874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 699b77f6-943c-48b8-8cfc-8624c059b32f CLINVAR:2765874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4298b312-08e4-4e80-aa6c-d3d90b73fa80 CLINVAR:339840 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e3e0d73-1bb6-4866-81e7-e86ee7816b50 CLINVAR:339840 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca18a629-b190-4705-9a62-b7a78af0d8a3 CLINVAR:3240387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56d5d157-d457-4039-b527-30295a68e0c0 CLINVAR:3240387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96aea50f-0cb1-4eb9-a293-a9e380a0abf9 CLINVAR:1063856 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69969560-09da-4705-ba32-27d6a234ec21 CLINVAR:1063856 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ec0abb1-8fce-4c66-a2a9-0887c48d1ce2 CLINVAR:898791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 305e0a5c-0577-4eb2-823b-5de6c48d29b8 CLINVAR:898791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8d121e2-73dd-4794-a570-3e07cae7e668 CLINVAR:896106 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 532bf49b-f174-45fd-aeba-d83dafa3104f CLINVAR:896106 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 568c4d7f-71a1-431d-8c2f-b7564c569fb0 CLINVAR:2783241 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5d42b9d-4bf2-48d9-9af5-7a83cbe359d0 CLINVAR:2783241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5504a672-577e-41a9-9b1e-07ef73f375e7 CLINVAR:895824 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f38fd5a-1c1c-4846-b057-f6143f36e0d7 CLINVAR:895824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5748b2bd-3041-4f35-ae9c-e13d7cad81f3 CLINVAR:339836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a6554d0-51d5-43a7-9df4-8fbc0dcd3666 CLINVAR:339836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b96b79b7-1e60-47d3-ac1c-c1238a275348 CLINVAR:1701963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93d93b67-070d-4f6b-afe1-7228142d3d9e CLINVAR:1701963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e1008b4-b9b3-4b87-b14b-b56fe5e3fe0e CLINVAR:896107 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d867ca6-33b8-4b87-9d3d-91d6b700a1bf CLINVAR:896107 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010de4de-094c-4fe0-a228-005bbc3e4c26 CLINVAR:895756 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 087af0a4-4647-455c-b093-8adba741d748 CLINVAR:895756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 620ad41c-7366-448e-a567-e344f2c87b1b CLINVAR:339826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cd130de-210c-4f98-b2ce-101c05f87763 CLINVAR:339826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 062a47da-3e06-43e7-9cf8-05a7c89fec8c CLINVAR:2752645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 436318db-802b-4faf-952d-c2c148b04a33 CLINVAR:2752645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4ad7a3e-43f2-44a8-955e-54b383552143 CLINVAR:2915634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df54aac9-c354-472f-a73a-74ad57f2c918 CLINVAR:2915634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2b72df0-41e3-495e-937f-0cb96706dc52 CLINVAR:1002392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9141c952-7ed2-4f9d-a159-ab9e9cf1006f CLINVAR:1002392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6109783-8afe-4f91-a499-98ac2da42db9 CLINVAR:2750603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 706ad204-649a-4313-bda1-96ea8d6c241c CLINVAR:2750603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90df7181-ebb2-4d80-8d97-bd5cccd60fb4 CLINVAR:962238 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95fc8453-ce25-4820-aa2b-86be285633bf CLINVAR:962238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 639c7162-f253-4dd6-8924-fcf837f4292c CLINVAR:1002692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d5114d5-a10c-4437-a5cd-2251793a7469 CLINVAR:1002692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f449129-bca6-44f4-9e4b-64f1df210807 CLINVAR:2715219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b30619a-0b7c-4be7-ab6c-43c049cc2eb8 CLINVAR:2715219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c920a52-f328-4ea4-80c7-d90ecaf0cb5b CLINVAR:1433502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 451436f1-23c1-4ab3-be97-80d13df39bd7 CLINVAR:1433502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c66b14d2-fdc6-495f-b850-87ca61190f22 CLINVAR:2887997 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4c99669-430d-4b76-8dfd-86373cb3baee CLINVAR:2887997 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36be253b-3b6c-424a-8261-e836c0e90266 CLINVAR:2810497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c400912-9ea8-4a8f-8e76-b31babaecac5 CLINVAR:2810497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f1e2788-b25d-4bdb-b8b6-f806e93fb90e CLINVAR:2965488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2990ff6-28ff-4f09-ac9e-5ce3fcbce3ba CLINVAR:2965488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1590d662-6a2e-4837-b4c2-f437f48db5bb CLINVAR:2738452 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f5e4370-2234-462e-b76e-6d1c2be9b5d8 CLINVAR:2738452 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 574a88eb-1395-45f0-ba70-2b6dc03502fa CLINVAR:962783 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4615b679-26ca-4943-9ee9-b4fe90dfe42a CLINVAR:962783 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 860cce01-4e8c-477b-be52-f6ff1f69fd88 CLINVAR:2397690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 748312c6-d78c-4699-b1b6-4e6a07b54e0d CLINVAR:2397690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccaed5d4-4607-425e-a958-da37035a31ac CLINVAR:1018236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22bf455e-2196-42cf-bcdf-5d7d3449eb28 CLINVAR:1018236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69623dc5-2271-4a99-8b57-3b1e8976f3b7 CLINVAR:2113692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b9beebe-aea1-43ec-bdd4-d4802827f48a CLINVAR:2113692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e06ca89-5ed0-4b70-aff2-83790fefdd51 CLINVAR:1036138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89bda466-dd54-4c45-aa7c-1bd061a62040 CLINVAR:1036138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fdf8439-1df2-422d-a8b0-9065a3cd640f CLINVAR:2067605 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 980f9a7c-f1cf-4cdc-bd82-87b55587b09c CLINVAR:2067605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3565d4d4-3c74-4771-bb38-80a05c192727 CLINVAR:1019366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa56b267-7b10-4867-8d75-e22858b42c90 CLINVAR:1019366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f390ad0f-4c39-46e9-b018-c467398964f4 CLINVAR:944258 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a871a913-7bb6-4080-a95f-6479d9086582 CLINVAR:944258 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a15a69dd-b407-412e-8ce0-c431c3dd9248 CLINVAR:3240393 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ef772dd-47c6-44c3-aae7-9164e52e6599 CLINVAR:3240393 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c534c22a-5ba0-4cb6-9412-25f34c00227d CLINVAR:1056713 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c389702-2772-4a76-b214-248c4885d1f4 CLINVAR:1056713 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6e69115-2a0b-43cc-aa18-df691e1bb18b CLINVAR:1635761 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54e5fb3d-2525-41e6-8446-b36d0444137d CLINVAR:1635761 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf22bc68-1dc0-46b3-adbd-fa4d0dd3d058 CLINVAR:3240388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1cb2cc9-5ae7-4cf0-9c01-25dec4a9f4ab CLINVAR:3240388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db1a0fdd-eeb1-4137-9851-24dcccd16151 CLINVAR:2770886 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb6c35e7-3913-4139-985e-ee96c79bcfa6 CLINVAR:2770886 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f20ab72d-4b99-48de-a4fc-e8f0c54e973f CLINVAR:1010308 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5e37bbb-c49f-44ba-9166-538fcbe8caac CLINVAR:1010308 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 194f7891-6c65-431e-ac10-875d0d7e72a7 CLINVAR:2850038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5319b6e6-a9c8-4562-bd34-d0c10d2dc0b5 CLINVAR:2850038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d869e84-5e2f-4a69-9296-fa172a2222a6 CLINVAR:2823312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43b470a6-f3b5-44b4-b7ea-865e61ef73b1 CLINVAR:2823312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f258dc4-b3d8-4231-a842-f2b566f0d751 CLINVAR:1037280 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a5da245-11fe-4c5b-99ef-018d3ef1cfe6 CLINVAR:1037280 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 296b64c9-9c43-49cb-a173-392f37065a17 CLINVAR:2714614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9c28166-ea37-4fbc-aa34-70ffd4b90c9c CLINVAR:2714614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7dc8919-3d82-4f89-828c-daa1bbc1fd7e CLINVAR:850021 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e07c17dc-b796-4ffe-a824-1b7e56a359ae CLINVAR:850021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f1e2f13-6060-4bf8-8faa-cdadef6df533 CLINVAR:2805569 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52e63633-5c9e-4642-91c7-200bcc0e9b38 CLINVAR:2805569 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5878e368-2c71-40f8-8fe7-d419ab77fdf9 CLINVAR:1004142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 473664a0-13f1-4ed8-8a88-49f3a0600fbf CLINVAR:1004142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 169979e0-e362-4765-8445-7b614cd5c835 CLINVAR:1043154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01724b99-8146-4b47-87ce-40876b8b0dd0 CLINVAR:1043154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 338ecba2-083f-48ee-8a78-ccb3532b3850 CLINVAR:1996609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e55be17-c790-48e8-a6c5-2621b9ad2f52 CLINVAR:1996609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bbcf90a-328e-4707-9184-2f4b8caa8264 CLINVAR:1039682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2035a853-e5c0-4c8b-b097-974a12bcdb00 CLINVAR:1039682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e60aa7-095f-46b8-80bb-2608d0f508a8 CLINVAR:2996309 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28bdc32f-f6c5-4b9b-9765-f6a59ac6cc6b CLINVAR:2996309 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1cf9135-99ef-40e3-9bef-5b69b5caafd6 CLINVAR:2717142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bf27855-69d1-4e36-9748-35d51e4c1116 CLINVAR:2717142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6df3be-e074-4e07-aa41-491cdfcf5223 CLINVAR:2717108 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34d3f22c-332d-4d7c-8947-53ca6aea8732 CLINVAR:2717108 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84785f53-d21f-4eaf-b285-7ca04b8f88fb CLINVAR:2678497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c3227ff-f6b4-4b53-9a3c-0b46b66a707d CLINVAR:2678497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d0f17c-53a1-40d3-8a03-ec2b504a3211 CLINVAR:1945048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4354ac77-10a6-471f-9fa3-238fbcc4ee73 CLINVAR:1945048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d119a3-e596-4116-8bb5-6b693e4d07f5 CLINVAR:2822749 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a454dd4-3c47-439d-b52b-4ef31b4b33ca CLINVAR:2822749 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcbbce81-10b6-410f-8148-b249119744b1 CLINVAR:936854 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 287fe138-b0c7-475c-aa2d-3137723c6ddb CLINVAR:936854 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 157f5411-9a44-4ce2-958c-9e4d0c35c039 CLINVAR:2863363 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80549f1d-199e-4bd6-aa34-592a813a65aa CLINVAR:2863363 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3909395-8739-4b3a-980b-e370242d4016 CLINVAR:2091961 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67510894-c80e-484f-bd0b-3c61dc5dbd7a CLINVAR:2091961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 597ea994-f889-4f5f-a730-6c404d132716 CLINVAR:2866349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46914039-c3ab-4831-a104-e35a7dd1a674 CLINVAR:2866349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1602f82-e42e-4cba-a216-be0a9481c89a CLINVAR:2718922 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a35bec9-29ab-4fa7-845d-8c533217769f CLINVAR:2718922 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e7620e-e528-4dbb-b9f2-36819a7eda81 CLINVAR:2912549 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93b354f5-9396-4a57-b2b9-4dfc606ec64f CLINVAR:2912549 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46410b1a-8c1c-4d8f-ae9f-c0f8bb74e995 CLINVAR:2799969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40a08c16-b7fd-4c9f-b697-6546c4326d12 CLINVAR:2799969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d0ce256-946d-40f8-937d-773258cba517 CLINVAR:2995907 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2a1401e-6c52-4480-a970-f3208b9cc0d6 CLINVAR:2995907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ee5b566-d252-4d86-bdb7-beb0537b5fc5 CLINVAR:855262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d34fb25b-8d53-4c7a-95fa-6123a800158c CLINVAR:855262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e50fe0b-2f3f-4ebc-8daf-dea59a908603 CLINVAR:1508015 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c91a0012-86c9-45ed-9f24-04a69f3072aa CLINVAR:1508015 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a25604cb-7a4a-4dce-950a-796b06a6997e CLINVAR:464010 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2da877c-915f-4fdc-9b38-17c6791720f4 CLINVAR:464010 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8093d05-4db7-416e-b7a3-68bfa168d369 CLINVAR:463978 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15eabe07-4d40-4a01-bb77-6b8b94730496 CLINVAR:463978 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c69a5600-ecc6-4e73-b9f8-7d998cfd7734 CLINVAR:2201687 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79542da2-100d-4a55-abca-0f513098b079 CLINVAR:2201687 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82e8802e-6a63-4eb3-b62b-6587004f13e2 CLINVAR:2198524 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5623e54e-d616-456b-bf02-b2f82161a9fb CLINVAR:2198524 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f675a9e-8482-40cf-a18c-430566df0c93 CLINVAR:2163488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11938dc3-1332-4262-83fd-0163e6e9db3c CLINVAR:2163488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0b0815d-3532-448a-8f05-348fce621e99 CLINVAR:2161020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c9b7f8b-c142-43cb-ac3b-4f2270801b81 CLINVAR:2161020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7f993a-d6f4-4d83-80cd-0c006c175135 CLINVAR:2156664 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf490e8d-7ec0-4b07-a080-3b8b4ccc96ad CLINVAR:2156664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8995f53c-cd97-4f1c-8e3d-85c27213bf64 CLINVAR:2834944 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cb8bc8e-d459-41b2-95f9-ae6898d25e12 CLINVAR:2834944 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef8e078-8814-4b5a-9e52-ce918ff6eecf CLINVAR:898914 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11f65ed9-4688-45ad-a335-3ae95900f805 CLINVAR:898914 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8adc1730-97bd-451b-b81a-92ed7ae23ce1 CLINVAR:1479269 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b04049c6-d17e-41ab-a76f-faed8a5974b6 CLINVAR:1479269 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3009307f-6e5d-4090-a694-a9674168d5a9 CLINVAR:1025603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9922bdb0-0425-468a-902c-a040863eb6c1 CLINVAR:1025603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a9739b4-0e68-4103-bb6b-52f56d25d413 CLINVAR:2099170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f2d757d-428a-4301-8ec2-ace1f2629d85 CLINVAR:2099170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89e7bf0c-b005-4737-b080-964346d3293c CAID:CA410202527 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55602e08-d2b4-4efa-85d1-f6285bb0b953 CAID:CA410202527 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 946e84d4-5892-4dc1-9634-a91acd3a7619 CLINVAR:2268033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e731afa8-4005-49ba-bded-f1cc1a2dc2df CLINVAR:2268033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad4924c-e271-4ccc-8c15-bc8c1e252c60 CLINVAR:1547462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e66a30e2-bf32-4d1a-8a48-5a6b98b0190a CLINVAR:1547462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c645832-184d-43ee-bb1e-5589c45d1414 CLINVAR:2761026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fef4b9c9-8775-45e9-981c-3b2061f9983b CLINVAR:2761026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c45777d-5b0d-47ee-968d-3ac55006a74f CLINVAR:2805962 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 553c0fd4-91b1-4022-81a9-5e459b983bc7 CLINVAR:2805962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d6de0df-b1b1-4de0-8e90-2bb4c74acb0f CLINVAR:2769230 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 493678f0-8846-44af-a8eb-0d761f2cb659 CLINVAR:2769230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0be0fc29-6e28-4122-b5b4-988c2d98d30b CLINVAR:2633656 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bf8d989-fd7f-4c98-9ca5-4cc59f485cea CLINVAR:2633656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71d5ce67-390b-47e8-a1af-f9f399d6ba5d CLINVAR:2443682 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1eb6265-2265-4a75-aa06-abc155f378e2 CLINVAR:2443682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22e1b7af-7567-402f-b141-1f0e12a05e9d CLINVAR:2108059 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e33a3902-c946-4cf2-b51c-e673958402b5 CLINVAR:2108059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e416c6-ca87-4f9f-939b-8c39fb10561c CLINVAR:2580053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82e8132e-0d58-476b-b28c-164f38f57d2d CLINVAR:2580053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f2d2cd-2f62-4e6a-b870-d85c67c61914 CLINVAR:3068220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d980d46-33b7-4bb1-b1ba-cb434a8be5ea CLINVAR:3068220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64a2c749-453f-4998-8438-be7d2ae47174 CLINVAR:2628467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17cd227a-441d-4d69-95b6-5d15919b3325 CLINVAR:2628467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a985b706-e100-46f0-81ae-dc3a354c4120 CLINVAR:2910839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5db7ca4f-22a2-4f2e-b9bd-15e7ac001577 CLINVAR:2910839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e69695-0ef1-4abe-99ad-8f4d38dc3a23 CLINVAR:1040026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac2a1a74-e748-4c12-ba44-90b64ac1a690 CLINVAR:1040026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 731f126b-b941-40d7-898d-372395b3ff38 CLINVAR:2126813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3548195-5c01-4993-b728-fee0c9fb0ed9 CLINVAR:2126813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bedad3b6-1e36-483a-8931-d7624b094fd3 CLINVAR:409808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b148c2f0-86b4-483c-9f64-99869b8c09fb CLINVAR:409808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dcf97ba-638c-48ee-84f0-f41717a893b2 CLINVAR:1012104 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a195bdd-c08d-4d89-ba53-215f52608d40 CLINVAR:1012104 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8934b5f-b915-4236-8fe7-352320a09caa CLINVAR:1466051 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78199f0f-0d35-42f4-b801-a5a5eb37432f CLINVAR:1466051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8f7da1c-270a-4328-a99a-2fca0305849b CLINVAR:856798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01968d79-be4a-4bf3-b25c-3feddcc7e3fe CLINVAR:856798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d74dc613-c724-4815-80e4-92979a67d985 CLINVAR:1684391 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3a197df-d34d-4331-9aee-639d7c53967a CLINVAR:1684391 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ab3a336-5770-4e91-9043-b70614b1417a CLINVAR:2091067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f40118e-1af3-47a6-ae65-23da8eec9387 CLINVAR:2091067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2525a4b-96ae-4482-9b4c-d2bc456f987d CLINVAR:1439261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ad9b0c4-59d6-426b-a328-04d6a4eb30c7 CLINVAR:1439261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a47458-8393-4b53-9d62-d21415e94dff CLINVAR:2678492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a11a3d4-5317-4a6a-b029-b1574c9fb06e CLINVAR:2678492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3889cd20-0a2c-4bfd-a09f-4e1d51696702 CLINVAR:2023119 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a7a246c-4203-4492-9d87-5cdd7deb1d47 CLINVAR:2023119 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6b76907-56a6-4cb7-b532-8abe697daac0 CLINVAR:2767710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ff5e787-5bea-498e-ada8-bd0d3bc45197 CLINVAR:2767710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7bd05eb-c7e3-4967-9cf4-e8a27888cb7a CAID:CA410148836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb3fd135-87d1-4ca0-92e2-f15965a2e1b4 CAID:CA410148836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bff4468-69af-45c8-91b9-4b6e52ea603e CLINVAR:2697219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7aa89325-76db-44e5-afb8-87692c6c593f CLINVAR:2697219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbe1ba06-dbde-437e-a610-db440cf27699 CLINVAR:440678 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc9becaf-0896-4b5f-9bb9-6c281622f841 CLINVAR:440678 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa894231-11d6-49ef-8585-de3fd2dea096 CLINVAR:252213 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fa87a9e-4e8f-4c2b-818d-f1dc8ba201b4 CLINVAR:252213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b60cd50f-6286-4691-a1fd-8a84c1558a7d CLINVAR:375833 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8643d98e-9ead-41d7-8dc6-edc9f73a0708 CLINVAR:375833 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8560b62-59a3-4b61-baa2-46e701c0f094 CLINVAR:183132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07c291f7-ea3a-4cbd-85ca-68d363accdbd CLINVAR:183132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11a814da-3d93-4e62-b9b5-11fa32782dd0 CLINVAR:250960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33c104f6-48fb-4d0f-9081-2fddf6919b37 CLINVAR:250960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da579be0-d1d7-46b1-9a6d-4163edf1eda4 CLINVAR:440624 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bfd9af3-8d5f-4cdf-a6f8-73bf7d241a1c CLINVAR:440624 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b847798-b93e-4b92-881e-be11181d476e CLINVAR:523715 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee3e1505-8052-415b-8489-9c47cf4be7f5 CLINVAR:523715 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bdeeb7c-ded5-400f-ae6d-afff72962882 CLINVAR:251853 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 296497a5-3a52-4ea2-a79c-1bb4beb2c566 CLINVAR:251853 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb11d62c-55bb-41eb-9f51-815b79c6fcb3 CLINVAR:251852 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c41f68b8-fea9-4651-a7cb-cd2b3085fd2c CLINVAR:251852 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e6d62e0-0d59-485f-8f0e-d4097d6ffff3 CLINVAR:252269 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd6fe3f3-1b48-4836-a80f-d91544a7b2ea CLINVAR:252269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdbffe3f-2d41-4980-970a-6edda8673bb7 CLINVAR:252267 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5b71615-fb41-4204-8216-5543555eff12 CLINVAR:252267 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c363c17-5a6e-4fb8-bf8c-9a48d72e2d58 CLINVAR:68099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1aee3f5c-0331-449e-bac0-2e884643b4f2 CLINVAR:68099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d47803-4a4b-4987-a9c2-b42b3aea4ba6 CLINVAR:251037 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 901d559f-e505-4e36-b5e1-9a9ce2e739b7 CLINVAR:251037 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0797b04-a69e-4e7c-8215-4f80c37960ff CLINVAR:425706 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a33d1c67-0690-47ae-ae10-15526f5a5c60 CLINVAR:425706 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033ffd33-fc61-4967-8dfb-973bf67938c4 CLINVAR:425707 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39d1f0ca-96fd-4bfa-bfdf-7e895be02814 CLINVAR:425707 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc48ea57-e874-4fb2-9f72-b4b8c151af95 CLINVAR:425906 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b824d05-7447-452e-a503-0da8eb60abee CLINVAR:425906 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed40e1f9-59dc-4054-88ec-1b29d5a7ec52 CLINVAR:933084 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cab0819d-211e-49b7-97c0-1486768fd2a9 CLINVAR:933084 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 484c2894-64ff-432e-baaf-f12f77a4ce0e CLINVAR:412136 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2f920bf-6cb8-4486-9bcd-f049360eb87e CLINVAR:412136 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aae7f44-ef75-4952-8369-e2fb199a4170 CLINVAR:937744 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d335590-60e6-4e55-b096-1368ec0d34ab CLINVAR:937744 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b8ed762-7154-464b-a00f-fa101b98e2ba CLINVAR:479637 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53e55358-3329-43ab-8358-290e84f61b41 CLINVAR:479637 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dce6527-c8b8-4392-ba8d-adedd712d59d CLINVAR:479642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15082a0e-6afa-40ad-8041-2960602294d4 CLINVAR:479642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0825f5a9-d2fd-4488-9881-91ea9248647a CLINVAR:854954 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28caaf73-34b8-4608-b272-6e38e95f49a9 CLINVAR:854954 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddacaac8-d527-4ddd-a67b-436e53ffb98d CLINVAR:92270 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afb85026-547f-4bae-92fc-af9234f3d3f7 CLINVAR:92270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00efb955-2b69-4283-8f25-fbb31dbe3001 CLINVAR:1336989 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80b78932-7b00-4f75-a995-a391ae7daa1f CLINVAR:1336989 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0afe026-b01c-4e49-8008-b02f374435ee CAID:CA409108333 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd69dd4a-f27c-4322-ac33-e36c872f54d9 CAID:CA409108333 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7bcfc3f-9e7a-4ca2-9339-a55711d7d8a8 CAID:CA409108330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41b7f421-ed65-41c4-b47e-d1fd6bd2f372 CAID:CA409108330 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9194a9d9-5ac7-453a-aee2-591034292dcb CAID:CA409108715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3068151c-f477-41cb-aba9-d9ada8cd462e CAID:CA409108715 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5edcff1b-8b5e-4975-a4ae-eb270db6cd4f CLINVAR:1700658 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7877bb3f-53ce-4f18-aeb9-460601071315 CLINVAR:1700658 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b847601a-48a4-4c44-9c80-6d2500d4bb3e CLINVAR:338422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e625010-f273-48bb-aad7-1f650b9a2048 CLINVAR:338422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 503fe365-eae6-492a-a25b-eaf1929fe02e CLINVAR:447519 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 191a4285-f548-48e5-a982-a9a80765ae64 CLINVAR:447519 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e4538e5-576e-43a4-a320-069ec5acd1b8 CAID:CA409108257 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26d8f6da-d3ff-4d7c-85c1-dfd80e178269 CAID:CA409108257 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c047508-edb3-40b0-9d87-e2e30821d06f CAID:CA409107449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2368d14a-1fb4-4c1d-a118-2386dbd7c218 CAID:CA409107449 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c55f5c-5095-4bae-bbf1-66366371eea0 CAID:CA367400147 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3bf404f-ce0d-4ee8-9cc3-5644e9389223 CAID:CA367400147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f69c2819-cde6-40f2-9245-fe1eec68fd5d CAID:CA367399714 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85d3fed6-31ac-41f1-83a8-71687e13641a CAID:CA367399714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57501711-75ca-4502-9365-f5bb97646703 CLINVAR:585929 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bf29783-6da2-43a5-b08f-d838f2e4f289 CLINVAR:585929 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 867a87c0-8da9-40f8-a3ca-b3bfd1c9a1a7 CAID:CA2695202957 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eacf127b-6654-44d7-887f-c9dbe9c64a65 CAID:CA2695202957 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 732e7f31-f7e9-4d12-b1c0-0f4d8bdd94a6 CLINVAR:3602130 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bfc933e-a479-49f4-ad05-2d158a7bb07e CLINVAR:3602130 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b92a5332-4ae9-42c5-90bc-e4b8e65b409f CAID:CA367401330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc89820b-f344-45e4-9d66-a5cbd8408f1f CAID:CA367401330 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea9d70e8-77f2-4caf-8d77-faad882bb08b CAID:CA367401332 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8f5ca2b-0924-47e0-a35a-40d93df1416a CAID:CA367401332 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c6a52e4-f579-478c-a388-bfa39c0e0c5a CAID:CA367401327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8217314-1633-4dc8-a1b3-f2b30c37431f CAID:CA367401327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08ffdad-c459-4f16-8789-b4601f0c8a03 CAID:CA386960233 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82906383-97ea-4771-9265-8f0c73d807c5 CAID:CA386960233 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17d9c0c0-6aa3-46f8-a6e5-3c429f1b5477 CLINVAR:1317657 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86b4d493-e79c-420b-bd9c-775b3eb082d5 CLINVAR:1317657 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 508b69b6-901d-4236-9995-61bfc76b8850 CLINVAR:1807441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2932b601-7c08-44e7-baa3-ce59e311ecad CLINVAR:1807441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75cd2393-04ea-4471-942d-ec9d043802fd CAID:CA386960365 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1519266-1252-4c53-8fb0-b60ac049428d CAID:CA386960365 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a409f15-5131-48f0-bbe9-c418d46c8d08 CLINVAR:1338456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98c21dae-b9e6-46d8-bb26-4e379f9b1360 CLINVAR:1338456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8947340-e667-4e12-a4e4-94cc97bc2f83 CAID:CA386960575 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52ec1acb-f68e-4a1b-a3d7-7e9645a15e64 CAID:CA386960575 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2975f974-f7ae-4885-862d-1b18e9e3cae9 CAID:CA2580612112 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9a6394a-08d1-4937-b7f3-5cae5ed05636 CAID:CA2580612112 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5d5b44f-8b96-4880-bd18-2442dbfa4f46 CAID:CA386958912 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6dabf32-8b91-4a8b-8571-0035192ace38 CAID:CA386958912 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2535e39-ecaf-449a-aa91-0717419e43d9 CAID:CA2580612109 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df3b735f-9607-4a62-8670-e3c8cd9847ef CAID:CA2580612109 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4af107f-6a5d-4f66-a382-3150d8b9a0b1 CLINVAR:586791 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c9d0801-ddcb-47a9-b064-7cde97f86e88 CLINVAR:586791 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4181b4a4-e789-477d-88df-44ef5b10595e CLINVAR:92301 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc5d61d7-06dd-4961-87f9-f8fbfe6d8cbf CLINVAR:92301 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e726c00-89e4-4bb0-8151-07ebb6b0b864 CAID:CA347215735 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14fe0a8e-d133-4184-b3a7-bc618f598e0e CAID:CA347215735 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f883c081-9f75-44f7-ae4c-ad05787a063f CLINVAR:596790 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e07a0138-8fcc-4242-94dd-9adcd40b9314 CLINVAR:596790 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24b4faf4-81bc-4c29-ba06-70a56d6ecde1 CLINVAR:98582 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 315fc036-2125-4ddd-a89b-cfc1f4d7380a CLINVAR:98582 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa77a641-520e-40b8-8f46-ac2a2a655472 CLINVAR:98610 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0dc56678-1aa1-414d-af6e-f3799a80b590 CLINVAR:98610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a429f3e3-8091-4be0-aebd-63fa02927a39 CLINVAR:560463 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f14c8069-ec27-4633-b20e-f7d0b2e6a920 CLINVAR:560463 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25895b44-f66e-40c7-935d-69c0527a8c4d CLINVAR:2137915 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 918a02a1-b249-4177-b5d0-e624e20e995d CLINVAR:2137915 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2323272a-1f3f-47ef-abcd-a0cac7872adf CLINVAR:423435 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26c09827-d58f-4594-9d14-5e09b4312c03 CLINVAR:423435 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8ddd99e-5558-44d8-b734-99536b12dc74 CLINVAR:859216 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 127f0d04-de3c-41b7-a3bb-7429a5164a5a CLINVAR:859216 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a8af6aa-da10-4e3f-a62f-768d51123039 CLINVAR:1001416 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5b1edb3-5e0b-4bda-b871-25c3326c09b6 CLINVAR:1001416 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b55b7166-431b-4e31-9a63-81b3d8ca00ca CLINVAR:198055 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75098a5f-33b4-43b9-a58a-03893607b364 CLINVAR:198055 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6541a2a0-94b4-4200-84e1-190a9d256dcb CLINVAR:803314 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eccd0999-904c-42aa-a4f9-c7882740c11c CLINVAR:803314 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e808a347-0965-4e5d-a709-9554b5de0a1b CLINVAR:98546 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25d19e1c-5027-4b2f-b999-2653626c5432 CLINVAR:98546 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e97022-f87d-4ff7-98ba-8d9aac479a83 CLINVAR:98555 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05b80d13-7892-43f0-bdcd-5d9268ca7763 CLINVAR:98555 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67b02787-d5b2-4771-ab5d-cfa11b37ede9 CLINVAR:974639 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5a39d91-2caf-44ab-9508-4b099f114add CLINVAR:974639 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4bd0f8c-e03b-4b69-b39c-b9eded351254 CLINVAR:98611 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f039f575-2878-48f7-b4c3-a560b94195af CLINVAR:98611 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9751fbfd-2fdc-428c-bf2f-dee5d89dc300 CLINVAR:1445009 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dffd607b-ba15-4575-9ed0-1cd05913ccd8 CLINVAR:1445009 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8bfc672-0a1d-47be-a605-08b2ab8211c2 CLINVAR:98584 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 085abbb8-2281-4929-9a9a-48e8524a798e CLINVAR:98584 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c621b8-2a35-448a-9012-5ac9fa8a11f9 CLINVAR:974655 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1949d6b-f369-4041-97fa-af48a9505296 CLINVAR:974655 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40718c0f-b642-4143-ae1c-ed6301cac430 CLINVAR:98590 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07e4b744-2fae-4f51-a6c0-8d861dc22b69 CLINVAR:98590 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dfb3b89-f659-440b-a2dd-8f8fa8d86947 CLINVAR:98581 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 254fbfd8-376e-49ce-914b-3b78fcac2b9e CLINVAR:98581 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23be382e-7975-47aa-ade8-c229237e3494 CLINVAR:98536 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bcbced11-2efb-454c-829f-533b76241120 CLINVAR:98536 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f822299b-b230-485d-ac7b-b4e6f8e24a1a CLINVAR:9350 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f315ffb3-9c50-4034-aaf9-4c13c7693483 CLINVAR:9350 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92321fff-06f1-465b-b407-6b7221c9a27a CLINVAR:638494 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c13b490-e1f9-4acb-a867-e1b85a4815c0 CLINVAR:638494 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6120a8bd-d1aa-40cc-a91a-3caf805f012c CLINVAR:98563 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09abc41a-b6c0-4e2f-be4b-37aed261d512 CLINVAR:98563 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a71b37b-b075-4e0c-b307-83e4a1c48557 CLINVAR:866048 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17bb04b0-0586-44c2-9be9-0726fb1117d6 CLINVAR:866048 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 226b59c7-5c64-49e6-b894-2f5156212516 CLINVAR:98603 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbcd2c4b-6a5d-4e38-a249-49398197bb72 CLINVAR:98603 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb0c604-dc51-4ac0-90fd-f2a1078559b2 CLINVAR:98602 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 321cb6b1-af26-4b10-90e8-64b5d5e53f19 CLINVAR:98602 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9f811cc-d8a5-4b99-8683-9d5660cdcae7 CLINVAR:803313 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 606d0195-75df-469f-bdcc-d62635da2153 CLINVAR:803313 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dda6f3c-2dce-4e2b-bd77-8b17a5a87645 CLINVAR:98562 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d17279d-599c-4153-b8f4-048e9d116d5b CLINVAR:98562 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 672d6977-ca4f-4bc3-be55-5844d0e35f66 CAID:CA8365937 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffa19299-a5d9-4873-b98b-bf38f31ac1db CAID:CA8365937 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb6c74e-68a7-4c82-8a27-cc66d010a981 CAID:CA397954516 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca416de2-4bcc-474b-bc3d-22bd9b364b7f CAID:CA397954516 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac51bad6-613f-494a-b6d2-9d4cbe6822a6 CLINVAR:581095 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f65d191-db6c-44d0-bf8a-1472b833a757 CLINVAR:581095 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86dbe957-3217-4c94-a785-7b3f640d070c CLINVAR:808220 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29ecf60f-ec22-4f21-9f22-2a89587a9bf1 CLINVAR:808220 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b734dd31-5b7f-4c52-a025-dee340db8b1d CAID:CA287523530 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd7bedf0-0a2a-4770-9bbd-1ca02af782d1 CAID:CA287523530 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2aeb896-84d7-4796-af14-3433f4c090ce CLINVAR:587413 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f280f6b-e2f1-4f00-b9b5-3e4a6f0621e1 CLINVAR:587413 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fbb1ed6-ef41-42f0-84a9-5847c072f930 CAID:CA397954276 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a9e70bf-cb78-4bae-9289-b6f5f947222f CAID:CA397954276 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbd8fc6-ceed-4a54-a7b3-a30b4d81e7e2 CAID:CA2695224294 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1350e11a-c99b-4a1c-ba59-9e909cea33f5 CAID:CA2695224294 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a333f8d-f87b-4012-bcd9-f1d71b5e887a CAID:CA2837582288 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f784520c-21c1-43ea-adba-be5a0726bab2 CAID:CA2837582288 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df4cff8a-ef03-441d-95f7-20035f957ada CLINVAR:861651 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1a2c36f-0d59-4de2-8903-5cbdfc1bb22a CLINVAR:861651 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab2dc4f-a834-44f2-b8f7-ccb62ece600f CLINVAR:98609 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56a49b75-876c-4da0-b2ab-29da4367d826 CLINVAR:98609 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98c58b7b-f2ec-46fa-9665-d257a96a8503 CLINVAR:98540 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14209bfa-3aed-423f-a133-ba6ee75eb7ab CLINVAR:98540 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f18082-027e-4230-afd1-6aa3fc4f0d06 CLINVAR:938393 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c080d57-977c-497f-8cae-c199a5546009 CLINVAR:938393 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a566474d-5de3-44ee-8fea-7af5db635ba7 CLINVAR:689384 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0be12ae-a3df-4dd6-aa26-92084c36f4f5 CLINVAR:689384 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f39319b-729c-451b-92b7-6a2ddc04efd3 CAID:CA2695224281 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28ad99b7-2f89-4968-aa2f-3afae62f6560 CAID:CA2695224281 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9170f055-a62d-4dfa-b06d-920c5319525a CAID:CA2695224312 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52d1be94-3956-4859-8542-bb430e0ca664 CAID:CA2695224312 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f822e2c7-6d65-40c2-878b-45a3dcef07bf CLINVAR:665724 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4c48ca7-0b9e-4119-8bcc-4a7506f6f66b CLINVAR:665724 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bd18bfa-a062-4a63-aefc-2556e9955fbc CLINVAR:250928 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01df9d44-3e8f-4240-9965-8cdb55761311 CLINVAR:250928 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6937abf-9f4b-40dd-84b4-bf6116d215a9 CLINVAR:251792 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 794f6eea-91f0-4531-9261-06d98a70af8b CLINVAR:251792 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f3026f-02ab-4397-a86e-032b0475de89 CLINVAR:251793 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad50b43a-f3f6-4902-8bd3-1675c67279e9 CLINVAR:251793 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44da585a-b8ff-4242-8aa4-541b40e459c4 CLINVAR:998052 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4452fbe8-265c-4511-9376-0e543283db00 CLINVAR:998052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38cc50f5-f0d4-4992-94d3-bd30e6c27f58 CLINVAR:251790 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88e82aa6-751a-4d22-b069-65dba5e9402e CLINVAR:251790 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87449897-dfcf-4fda-b54b-9b4041198e1e CLINVAR:100287 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27d43a6e-55b8-4be0-ab97-dedeb17fef5f CLINVAR:100287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11366e13-00c1-4550-bb37-1a51d9997217 CLINVAR:313 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf5ef9dc-6dec-452b-96b9-c5e547760016 CLINVAR:313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29947319-4bfd-409a-a5a3-50cf685b546f CLINVAR:317 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b039b6d-9a17-421e-b86b-0557968fdb82 CLINVAR:317 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e48660c5-3f68-45e5-a267-fd12245e5253 CLINVAR:1684007 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80abe0a4-f1b7-41f1-91cd-17977515666a CLINVAR:1684007 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec3bfe80-dafe-42e3-beff-eb4e109a3b24 CLINVAR:100305 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02e3887e-4235-477a-80ba-f14f93e6c76a CLINVAR:100305 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee089ed3-15f8-46f9-b35b-9ebdbf86f572 CLINVAR:292 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d761a12-4668-4eed-b090-34c8c8d6369f CLINVAR:292 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e287d0-127e-49bc-9fec-f457d5756811 CLINVAR:251826 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07d834c6-4480-4809-86d9-32fa13b8986e CLINVAR:251826 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26eb211f-36aa-4f84-b3a6-cb0eeb86bd82 CLINVAR:251108 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 124f3627-564d-4a1c-9bf0-97baee3b566e CLINVAR:251108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b04d4540-ede7-4e51-a6b7-ebf78406f7c6 CLINVAR:250944 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 039f3753-e5e3-40d7-b1cf-c583fa74b014 CLINVAR:250944 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df97bc20-de3a-4f44-97fb-58686efd1577 CLINVAR:250964 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee265af0-61d2-4907-8c59-d2037c82a48f CLINVAR:250964 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b5e0959-6d4a-4de3-a658-c282b395b54c CAID:CA397319701 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e5a85a2-6f22-427f-ad27-4abe071a7811 CAID:CA397319701 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c61225-6361-4828-b764-9a7e5bf5147d CLINVAR:585094 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 543388d4-d359-4e79-a17d-f42da0b9a8e1 CLINVAR:585094 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a40485d1-3b80-4d83-b57a-aa51091a99bb CAID:CA2580650458 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0dc20c35-743b-4792-80a5-24f314ff8b89 CAID:CA2580650458 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cacd5a50-ee11-4e6a-aa8b-9e661d66ea19 CLINVAR:3690 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95a35e13-83ea-4043-81d0-1c887d7d3be0 CLINVAR:3690 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3e914cb-4f1f-4616-9c5d-b72d745924d1 CLINVAR:375798 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d26d161-6ae1-40db-ad2f-1406da1d12d7 CLINVAR:375798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ca23eb-3489-4017-9a01-5311a829d5c1 CLINVAR:252034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ce10417-98aa-4e51-9da9-4abeba60467c CLINVAR:252034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8076ae56-3cec-41c3-b5ba-e7942455919c CLINVAR:431535 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80199976-7ba4-4dea-af84-f9732539f5dc CLINVAR:431535 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ea4c9d-b2e5-432f-bb8a-b4177ac9d7e4 CLINVAR:252140 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c74daf43-6821-4a14-86f4-14a9265a1e43 CLINVAR:252140 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec714c74-b6df-457d-a5a1-0ded74795088 CLINVAR:252354 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ade3bf9c-b365-4191-9fef-7175c03700d3 CLINVAR:252354 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b899d3e-d60b-4eac-a25d-d1581c73fc2a CAID:CA410677511 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e5b8e2f-0f33-4d5e-a46d-bafd94448a03 CAID:CA410677511 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa610a8-8644-4b43-8d23-a35d9d2f69c1 CLINVAR:1684369 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74c62502-345d-411e-a203-866b02d7533b CLINVAR:1684369 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa718b46-8f3d-4dc0-83f0-1c25428a7a54 CLINVAR:2137887 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca8ca49e-e387-4dcb-a1c0-e3912ba9991f CLINVAR:2137887 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 649e4b6b-4c10-4422-9d8b-21dd77cc55c9 CLINVAR:435347 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 135ec376-8c73-41ab-9675-3ea46d7c233c CLINVAR:435347 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 004feb63-b7a5-4bee-8a69-608b35725f9d CLINVAR:1684365 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6529ca5f-a23a-4d41-9ec3-d71a861341a4 CLINVAR:1684365 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbf988d-1bed-4e36-bea0-32a76d1bb2b5 CLINVAR:449564 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42aa1203-1f4d-40df-995d-2e93ffd44557 CLINVAR:449564 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfb10c30-0fba-4110-afa7-af692c508262 CAID:CA397316321 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e913f6a-a7ad-438e-a0cb-657d508288f7 CAID:CA397316321 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72313d83-962f-4588-9888-5c7d5c23603b CLINVAR:1691251 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9103c5c0-1f58-4d94-b4aa-e06ab52e30b1 CLINVAR:1691251 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b74a0bb1-8a7c-43d9-a0b9-f03eee9defb5 CLINVAR:1691232 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 238e1ee0-4fd9-47dc-91ea-0843b832cb03 CLINVAR:1691232 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f81ddef2-8a41-4cf0-a3ee-310495a7dddc CAID:CA410677679 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b495cf3f-b993-4470-8ca5-04f11cf42e9b CAID:CA410677679 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d417ff6-41c5-487c-bc9b-6946e34adbd3 CLINVAR:1691253 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24a3ce3a-7b0f-4aa0-b90f-5883531a2a5a CLINVAR:1691253 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8cbcb4d-15a8-4cbe-8d75-4678cff9f386 CLINVAR:1679210 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a311565e-016b-4ca2-9b49-ed123bbe033f CLINVAR:1679210 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 286165da-4286-42c9-ad48-e532a15f0d79 CAID:CA322079952 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ea82ef1-f272-4963-bf2c-4f5548642116 CAID:CA322079952 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddbb3d2d-7ad7-48ae-8886-d9a4a9a865d4 CAID:CA410676622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25a0c103-b5be-4243-8f36-15b76c815691 CAID:CA410676622 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6687fb52-e014-48ae-956c-f0d186811ecf CAID:CA410676959 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c677d547-4d93-4810-a640-8fc79fbaa9ff CAID:CA410676959 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85feba58-f630-4822-b69a-684dd682fc4a CAID:CA354447789 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 608c9140-9b91-48ec-a36b-bae85ab2f8af CAID:CA354447789 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d20c0fa-bd82-4683-9f6b-604b34216aa3 CLINVAR:1691236 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b8703c4-7157-4572-9952-c5ed4fe38c5f CLINVAR:1691236 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1051825-ab75-4eae-960b-67c9db66620c CLINVAR:13529 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12b6bc43-ee71-4f48-8fd6-a91fb95acd39 CLINVAR:13529 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a97dccb0-17c6-485e-afa4-381af51fbf48 CAID:CA658760369 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d94b558b-4b90-4c25-9c66-eed90616f58b CAID:CA658760369 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b608a01-23f5-4242-a2cb-66c023361acc CAID:CA354446617 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cbc5d22-99d9-44a6-ae05-f958125c31b3 CAID:CA354446617 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7025adfb-3190-4404-91d7-2fc4eba9a4e4 CLINVAR:627075 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c355eb10-c750-4612-b5ef-a2f17063aaa9 CLINVAR:627075 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf5a5971-68c6-471a-9e34-d949bac68fe1 CLINVAR:812970 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ad05570-3ea3-43ba-9364-82d5ac60aca8 CLINVAR:812970 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e847514-28e5-4b61-845d-25c01c46a9f0 CLINVAR:16038 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ddb0b48-86c0-47ee-b307-ec6abad6d958 CLINVAR:16038 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1fb5219-ddce-472b-b8a6-c5b9b574dc38 CLINVAR:872581 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fce8afa-af73-44a2-8e5e-ed77632b8809 CLINVAR:872581 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1094b08-30bd-4db8-b0d8-064ed10d7690 CLINVAR:2736403 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2437efad-a14c-4abe-bbbf-afb977e719d2 CLINVAR:2736403 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e59c933-15a8-4edf-a22a-c81d2cc1b791 CLINVAR:523620 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f7bf252-937a-4fd3-b504-f2f9bff08621 CLINVAR:523620 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27aa387e-8169-450f-9974-249b273bc97e CAID:CA410676856 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a46fdb43-2a3a-4ade-83c9-cb9fb613f9cf CAID:CA410676856 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef0768d-bc76-42b5-8d44-1f5b8df81248 CLINVAR:627320 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d848a7a5-5ea8-4a4f-af73-073de10e5c8e CLINVAR:627320 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ad0551-b663-49e5-8dd7-788223e32d41 CLINVAR:1691254 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20949257-a2bc-443e-8982-aff394b65161 CLINVAR:1691254 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 774ba8fe-a078-49e4-a26d-568518a015b6 CLINVAR:1342712 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42ffa78e-3140-4bea-bf30-a787ce39118a CLINVAR:1342712 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bc06998-4fbd-4b50-b981-24a8cc087e60 CAID:CA349036828 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4e2caf9-73ec-4a4e-b7ac-21495e0c5701 CAID:CA349036828 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f08b14c8-5842-49e8-873b-ddf1f4ba2b1f CAID:CA349036836 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13df7f50-20e5-4b23-8940-729613c1bc9a CAID:CA349036836 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b453133-a2bf-4880-a5b6-b7b29c06d330 CLINVAR:383825 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6344896c-e78a-409d-8292-02c0281f61be CLINVAR:383825 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57da0bc7-fd68-4a60-9edf-c3aba6776bdd CAID:CA343772421 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77862c11-c16f-4f27-ab55-f3b3a6c25deb CAID:CA343772421 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d1c199-7055-4014-95a6-98aa9df734b1 CLINVAR:627231 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80b1a728-8769-4247-91a0-4ed454a46fe7 CLINVAR:627231 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb0527e-d434-4f21-9b23-6a427bd3fb18 CLINVAR:1127805 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bd7d0d1-9b6c-4c5b-8e63-192d5e2a2002 CLINVAR:1127805 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33b84158-b646-45b1-bb44-4c5237c7c6dc CLINVAR:18045 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 424bf409-6c69-4dc6-8162-48611439535c CLINVAR:18045 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4134cad9-12ea-485e-9281-476b696cb8b1 CLINVAR:440643 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72fbcb3f-5387-4433-a641-94e1066bc0c8 CLINVAR:440643 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2efeebb6-6524-4334-88dc-fef94a02b76d CLINVAR:992900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c6e3e22-6042-4223-9bfc-df9d6b27e9f7 CLINVAR:992900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c17c22d-2b48-4142-ab2d-6b5cbf8bad8c CLINVAR:251840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31638608-faf7-47fe-a5da-18b5e2b57f2a CLINVAR:251840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5e2817-a043-455a-becc-14587f9ebcbe CLINVAR:36456 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 971698f1-a1d0-43d0-a42f-9b4f2fcf675e CLINVAR:36456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a59343a-ab50-4d86-a9d8-69929d11c0ea CLINVAR:183113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9370818c-c9c2-4bbf-876b-dd115d5c3775 CLINVAR:183113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a751d442-d215-4ac8-a552-754878d95f65 CLINVAR:1078477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c07da48-64ea-4624-86de-6a700525d7d5 CLINVAR:1078477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9d6447f-2491-4ef7-9dc2-40b2ae351ea7 CLINVAR:571484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7161339-014d-4552-b10f-2fe7d36f2208 CLINVAR:571484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc292482-0ac9-4508-8f14-60e3cddfa5e7 CLINVAR:3157196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ef1b719-0b80-454a-b0a9-10a7a7281583 CLINVAR:3157196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e079457-73d2-4fed-a2b9-7d65e6ec18cb CLINVAR:3368645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ff4a2fe-a3a0-4b1c-a735-176d87d0663f CLINVAR:3368645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 478c248c-d13d-47c5-a4e6-6626fc3aa3bf CLINVAR:3342374 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 642131bc-e1c2-4321-99f8-5ed339bcafa1 CLINVAR:3342374 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6660d648-08ee-4678-928b-afa48036b9ca CLINVAR:2121324 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1186b84d-9b5d-4706-a306-6b0dfdc7d5ae CLINVAR:2121324 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 233578ef-7889-4621-bd0d-72f75bd8fd5e CLINVAR:3377307 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26646b44-27a1-4482-a242-01e4e5cf200f CLINVAR:3377307 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf50d67e-05fd-4c38-b6ec-b2544f086124 CLINVAR:324989 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ddbb600a-5a0c-4d33-85fe-c06eea93cbc3 CLINVAR:324989 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ae88e0b-df17-4e99-bc9f-9ba2cddc3869 CLINVAR:3240389 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a3e41cd-9b80-4482-8971-5a13130fc7b4 CLINVAR:3240389 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e1696af-0235-4fa6-9887-0fea8845622f CLINVAR:898858 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 993d901b-7b7b-477e-9ec9-93f31ac01ec8 CLINVAR:898858 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aa8463a-6a21-4304-8c97-2922950d5c04 CLINVAR:933316 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f54758e4-6d81-49b0-a63e-e5b402914ef3 CLINVAR:933316 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9161b8d-c383-43de-8638-694369e4e4f2 CLINVAR:3370796 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af804eaf-7395-45e9-9239-0770be624e9b CLINVAR:3370796 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c15db2-730d-4bf1-911b-24395ef490b5 CLINVAR:3003823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99841ef6-5c9d-4927-b52a-e9b7c4e9a6de CLINVAR:3003823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d301f2b-a2bb-4a20-9eb4-7039e2b5b754 CLINVAR:1477479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a9d43fe-fa9d-404b-b2fd-093c37adc09c CLINVAR:1477479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ff22a0-9b63-4f5b-a3d2-ded06a52f04f CLINVAR:1012031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60da3d27-aa85-47f2-8e64-78bc473718a0 CLINVAR:1012031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476c16bf-6059-4099-a017-1a76d8902de9 CLINVAR:3436404 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76eadf83-3f79-4714-90e0-b528c213eee3 CLINVAR:3436404 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a51d9e-764f-4fc7-82f1-9cd96dec3997 CLINVAR:3365708 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 622da21b-423c-4d7e-8966-d8d1aaab9232 CLINVAR:3365708 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435fd3b9-3718-45b2-aec9-2e72e42fd8ae CLINVAR:3257846 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9f7d700-853e-49f7-904f-84deced9e56d CLINVAR:3257846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe914bac-92c4-4430-a0ff-4ca526fdbd9e CLINVAR:1142095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09414e8a-9203-436d-a5ee-655aa2a67c03 CLINVAR:1142095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b96e113e-43ae-4aae-b29c-a387bb2a3538 CLINVAR:1290150 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33ba4259-d8bc-4786-ba30-d986e07e0312 CLINVAR:1290150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e70a9d3-0043-4384-ba3a-80a5a1b570f8 CLINVAR:633286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c883fca2-f029-4353-af79-c24b0d18d7fe CLINVAR:633286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f8e2fa-338b-40d5-9a89-f1af06eea4d4 CLINVAR:927821 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 633f33a9-b5ff-41b1-acf6-2c4deda3cbde CLINVAR:927821 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b2cb5f-66f1-4175-93d2-0c9485ab66f1 CLINVAR:431516 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65d096a3-3a0a-4a1a-b414-f0e37169c3f9 CLINVAR:431516 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 604f17fa-9cbd-4e9e-9912-1258e02805e5 CLINVAR:251492 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d6ea90a-c35d-43d7-b2f3-9955199a2a91 CLINVAR:251492 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 658a597f-8c1e-4114-b4cb-efdcc7244b03 CLINVAR:2010905 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c6d934e-d5ad-439d-bb65-adbbcc69190f CLINVAR:2010905 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24ea3907-3021-4733-a692-c620680841cd CAID:CA2797727079 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfc22ce8-ed9d-4c2b-a5fa-edcc4df60eb9 CAID:CA2797727079 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e823148-5468-4082-a011-5932473282b6 CAID:CA386958942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d16d4dd-d096-468a-8822-e52c317e21d4 CAID:CA386958942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe1cd55-a8f6-46a5-b8be-a0f4dd07b8f8 CLINVAR:2575051 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a3d80c8-b50c-4507-a5f6-1f60dfc6866e CLINVAR:2575051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9144e51-725f-4e18-95df-31ba00d1add3 CAID:CA2018007654 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 813d3474-51c4-4941-a64e-b58cdb6628aa CAID:CA2018007654 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6eec8aa-b14c-4264-9af0-0ae249b4023f CAID:CA2018007655 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fa2ccda-dfac-4653-b553-882f73c28bce CAID:CA2018007655 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34467fd6-7648-40fb-ba5c-a52670d7e400 CAID:CA315408883 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47b7fa64-9a29-4b5a-8b67-b4883fbb7fa6 CAID:CA315408883 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a7c86b-d1d7-4012-86ec-fd0b0d2766c1 CLINVAR:804916 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d39db38-5e0e-4fc0-8a72-7d63953f6ec7 CLINVAR:804916 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33011f2-56dc-40e7-81b2-aa016502f5b6 CAID:CA315420234 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7e0d1d2-65f6-4d02-ab99-9825a2f61493 CAID:CA315420234 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f756794d-d253-4d87-b463-2197f002e8ee CAID:CA367358198 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98bd7798-7b22-4eb7-9940-6dbb626f345e CAID:CA367358198 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6814fd-8981-4753-b042-6ffe7d87a642 CLINVAR:129144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed3abc8a-718e-4af8-ba20-9d2b768b9557 CLINVAR:129144 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee55c3aa-7ab9-4633-bec3-ec10b5dbb13f CAID:CA367403318 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4a7deb2-34c8-49d3-8758-22f3e432d456 CAID:CA367403318 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144f8bec-207e-452d-a096-26fee7282ee4 CLINVAR:418225 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c93d58ba-3c93-4003-b8ac-417a53877ff7 CLINVAR:418225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d77af42-2914-4eba-bc24-eb672b565b50 CLINVAR:377026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f074fcde-8e0c-4278-affd-0c10871938e2 CLINVAR:377026 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 834364f7-1261-4a72-b07b-2c9f5d3cd1a0 CLINVAR:196223 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e00b620e-57cf-4710-9b46-ba6ac0b4c9cf CLINVAR:196223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea92837-b0e4-42d4-b11c-0e3bcbc0d191 CLINVAR:1065143 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82d370b0-ff1c-4711-a3cc-6e1cff302b9a CLINVAR:1065143 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22df3b2d-d1a1-4e58-8c85-d89f8763051d CLINVAR:370146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 061c5cb5-a074-4132-8a4d-42f102f6bfdf CLINVAR:370146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2595cc34-c005-444b-ac8d-4b0c8781df5e CLINVAR:371281 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5063ba0-05cc-4be6-8a59-52ee221a47fd CLINVAR:371281 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e09070f-6b0b-4720-97b9-fd13a8916e52 CLINVAR:189040 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 470d00ae-d7db-461e-a064-5f47f77ece62 CLINVAR:189040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6048c9c-b835-479b-8e87-68a98a45181e CLINVAR:556386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3bd55f9-b38e-433e-8945-544e7f285497 CLINVAR:556386 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbda4885-4f8a-4585-ae32-d8b487401dd7 CLINVAR:370222 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a46957ec-6e5d-4d02-a17c-6d2dd3c20f0d CLINVAR:370222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12f96df7-08fb-489e-bf55-78d645e8d41e CLINVAR:284776 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78527799-395a-4449-a67d-6bc3dfd519db CLINVAR:284776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afd894da-29e5-4279-9835-eca6dd0b4db1 CLINVAR:953728 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e80ff9a-21fd-4063-9c2f-ff79b9ceffd3 CLINVAR:953728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 251c27fb-2d94-42fc-9d61-d59c2310e3f2 CLINVAR:972793 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05390939-fd4c-4ba4-9d0c-b8783d72326f CLINVAR:972793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7e9c33d-4049-4123-adbf-624c303683dc CLINVAR:982495 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20357689-8c07-45e0-9203-435e53047010 CLINVAR:982495 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9601c48e-80bc-4e1e-a9cb-1cae7267c8ab CLINVAR:528065 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae8240a9-8ecf-4cc5-9532-4ea0631e9d1d CLINVAR:528065 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52917112-060c-46a3-bce1-69ee401494e1 CLINVAR:533345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8db8aad0-c3d1-47a5-889a-74a0933091f5 CLINVAR:533345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f7840eb-3fa2-47de-a194-74c6decfa47b CAID:CA355961228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a20f59ed-75d4-44aa-be2d-ad4c1d8632f0 CAID:CA355961228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd0ab950-71bb-49c5-9cd8-7b3f757ce8d5 CLINVAR:222997 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e77ad0b-cf60-4c80-b08f-6d21466d7eaf CLINVAR:222997 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e71e188f-959c-433d-9758-0c4d926862b4 CLINVAR:556064 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d4be59b-b00d-4025-95bc-e5935b26c724 CLINVAR:556064 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc579d87-b1a8-4a08-afef-fc86518c26e3 CLINVAR:551966 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a7ab994-dabd-472d-9c57-3bb4c982de78 CLINVAR:551966 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddd739fa-ce1b-43b5-bd7d-8dc66e0cc21a CLINVAR:1683229 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfe79355-7623-49c6-96f7-513ee58c88ee CLINVAR:1683229 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e57fdd-ab89-49e3-9e80-a69d602b7954 CLINVAR:556358 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 787f53cf-a37d-4190-a676-8ffc92a393a1 CLINVAR:556358 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b05abced-80e0-4071-8f1a-6bc0709149aa CLINVAR:950888 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 863837ab-30fb-4e89-8b10-98a4cd0dcfbd CLINVAR:950888 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b735f4-44ce-4f8c-b77b-14d8d0b1ed4f CLINVAR:550474 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc1ab59b-688a-4f3b-9a1c-8da788520fc3 CLINVAR:550474 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f890568-6039-4638-9c4c-ed1abd6773d8 CLINVAR:226360 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edec0ce8-4081-46f9-a9f0-7ac5f75cff9b CLINVAR:226360 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f3b13f-ff08-4947-9090-4cd57eacc82e CLINVAR:251896 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f0f172a-803a-48cf-8078-18a9fa045209 CLINVAR:251896 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87c37854-2110-44be-9091-af986fc5391c CLINVAR:224617 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 384a4b5e-e000-4af5-859a-b67f041d041b CLINVAR:224617 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df02a7a-0289-4572-95ef-85907b148111 CAID:CA400029776 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06a6df86-ef34-4fc7-abf8-cdcdbe3fc4ba CAID:CA400029776 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a9323b-6b7b-40fb-a480-aeb478baffc1 CAID:CA2695224149 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5733a999-9667-441e-9c2e-f86fb3407caa CAID:CA2695224149 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d3cfbf8-652c-4e03-84b5-7ba3f494850f CAID:CA2695224151 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5da06a9-f4e9-4cf1-84fb-1b9f7deeba50 CAID:CA2695224151 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a69d8f-bdbc-46b1-b468-c0acf101824e CLINVAR:13533 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a55fefd-1e1b-4107-b1ae-c379c3fb3d65 CLINVAR:13533 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd9bc6cb-510a-42fa-9370-a623015fa740 CAID:CA2580060377 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9830dbbf-2595-4513-bab7-26e877d743d0 CAID:CA2580060377 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ab1b07d-6271-4b03-9e8c-8f561bdf6fa9 CLINVAR:900153 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 255ba67a-4e1d-4fcc-b712-c38c5445e26e CLINVAR:900153 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eb342ce-0ff0-4bb1-b57a-83d7e7ef8af0 CLINVAR:503800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bbf4c88-9cce-46e2-a155-176a7ef14d73 CLINVAR:503800 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d70af5-e2d8-4233-9336-d807d1baa122 CLINVAR:1455030 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ac9f34a-51dc-4a09-8569-5133d52eef20 CLINVAR:1455030 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d32cd0e-c3e9-4965-911c-cf65e5725285 CLINVAR:280068 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 683759c2-178d-4835-af78-0dc6a653553d CLINVAR:280068 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec14899-7054-42af-bab3-3d92c950ae5e CLINVAR:242418 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e11eeb4-5892-4e3d-992e-4cdfd03e2109 CLINVAR:242418 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b3cf28-56db-4ffd-87c4-a565398f9990 CLINVAR:2203089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4ec434a-714f-4adc-b16c-6a1381ff6497 CLINVAR:2203089 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b2a496-c91f-4aa6-8678-6b64a940480c CLINVAR:94351 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e64fd803-4a64-4504-a81d-899b996a57fb CLINVAR:94351 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d8df33f-d1d7-4332-9601-19b4f7f9f7bf CLINVAR:2100759 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1eb7be07-21fd-4b4c-b07f-cf1f01bec2c0 CLINVAR:2100759 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bfa18f6-dd74-4b8b-bfa2-5d4e65ff5732 CAID:CA2586969535 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab9a6e15-1a75-438b-8006-8b94b231c615 CAID:CA2586969535 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a2b4f85-6565-4cdf-b2fe-c1e1c1adea7d CLINVAR:488834 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d579744-e207-4b3a-a3e1-761f6d0fedab CLINVAR:488834 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240c8378-236c-4b82-b5d5-f7bfa48bfc29 CLINVAR:500214 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6cd348f-4848-417d-bdb3-64e40369a8ac CLINVAR:500214 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f0ddd9d-dae1-4c0b-b5cc-3c14bf953019 CLINVAR:852860 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ded6dd2-9376-4548-b92e-735bb4edefa9 CLINVAR:852860 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1637c7-5ad7-4a8b-887a-a493d4f4e9d4 CLINVAR:251763 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58896d3b-eb27-419b-b295-8c0ecdc2ec16 CLINVAR:251763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60805014-e401-4373-a444-c707966d5248 CLINVAR:1120245 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ae80bd8-d8d5-4918-8d6a-0d2fb8403d13 CLINVAR:1120245 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c55c11a1-806c-4889-a009-5e1f8d3315f9 CLINVAR:200922 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59016774-138e-45a3-94e1-5316353aae74 CLINVAR:200922 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b89aa0-0c75-46da-ada4-f8042043afb4 CLINVAR:252112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89baa9c2-5269-4485-b8f3-496e9e2700ff CLINVAR:252112 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0a125d-867a-4524-b70f-4726ddf3487e CLINVAR:406166 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61601f6f-a532-40c8-b5c2-d8f4abc741a2 CLINVAR:406166 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa96c20-9418-44d6-ae40-3dc54e284fb3 CLINVAR:403662 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4c1d8a6-07b1-440c-9540-fa02abed81ab CLINVAR:403662 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5185f200-c8ac-49ab-b1f2-c044b2121054 CLINVAR:627156 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74883035-1a57-4e99-a1c3-cbaf30787597 CLINVAR:627156 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7ebc55b-df25-4bb6-a9bc-7e2f17fe8d2e CAID:CA915940889 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cac93d97-a864-48d9-ba9d-6c301356d342 CAID:CA915940889 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85fb2f46-bd57-49ff-994c-85049bc9ecb1 CLINVAR:439683 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f4f1e87-64ec-4ff5-a3d2-aa1bd60de1b4 CLINVAR:439683 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f49ebc5a-70ec-4cd0-b04f-10480e6df390 CLINVAR:10624 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6a67fe8-eb5b-4bc7-bd2c-6584d50a8c40 CLINVAR:10624 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf4f7ae3-0821-4792-81f3-21a34a51a098 CAID:CA414914394 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fea351d5-10e6-42a5-b854-a38385912a64 CAID:CA414914394 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 354b7468-8423-4141-a5fc-fdc696578f87 CAID:CA414914392 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8472e076-057f-4ab1-969e-fa665a242722 CAID:CA414914392 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9b8dfe9-834b-45eb-91d7-67628e3b9508 CLINVAR:2691907 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6de72f2d-60ce-49c0-9ae2-c057e3befc1a CLINVAR:2691907 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 191eda48-e379-4fcf-9c78-65cedc17f245 CLINVAR:11915 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e372fdc1-1be1-468f-8ee8-ecbb2c770eb9 CLINVAR:11915 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd883b0-c34a-4778-90c0-9d20af981701 CLINVAR:552333 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 015aa9de-25a7-4fec-903d-5313560d9bf0 CLINVAR:552333 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba46714-748f-4e45-8bab-f8d9bb132946 CLINVAR:555490 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fc37576-3ea8-4d42-9d97-8f1e1d23c84a CLINVAR:555490 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e5ad33c-c8ca-489b-8d0f-34e573919398 CLINVAR:9725 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdb53f89-d33a-474b-8732-d55200dbe8be CLINVAR:9725 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c315612-ad46-4f6d-94c0-1d0d7c6265f2 CLINVAR:9603 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9402c41d-b268-489b-800a-630fffddeec0 CLINVAR:9603 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ecb9f36-07b8-409a-9758-36c6953faa32 CLINVAR:544259 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2689841d-3934-4b33-b22b-94fe139d0ffd CLINVAR:544259 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e34b8b9f-adb7-4a8a-ab9f-9976348bebce CLINVAR:1139929 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ab232ea-42f0-407a-8dd4-a373177df4d4 CLINVAR:1139929 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0be3e5d0-0cc7-47c7-a06a-92219cafe5fc CLINVAR:7282 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c63e0ace-6382-45c4-9bf5-eb6ee3e537c2 CLINVAR:7282 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cda45aa-9920-4d63-9d8c-88fa4a54a5b5 CLINVAR:558189 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdbaa40f-9c10-40e7-92e4-6f826aaf3cd3 CLINVAR:558189 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d5616b-d3ee-46e0-95f8-0c96e4787651 CLINVAR:242721 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53acb785-99e1-45ea-b936-44ac8cd6571b CLINVAR:242721 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac393cce-eadb-4770-82a0-c8d99c3a258e CAID:CA2573332240 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a319a7d5-14d7-4e87-b282-55d064ef8a7a CAID:CA2573332240 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46cca735-d76e-4caf-b4e5-1e16c3745603 CLINVAR:550883 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 935b34ea-e2b7-4b37-b2c4-15547d8733e1 CLINVAR:550883 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21d21b08-5721-45b3-b47b-a3579f4bebc3 CLINVAR:456720 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf43934d-b0b8-4fe2-be97-d07ef98aae3d CLINVAR:456720 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da2cbda5-e2f8-4c01-a40d-3ddbf5103d00 CAID:CA355965290 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0f72ec0-a315-49d8-9059-b49f4dd2c55a CAID:CA355965290 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2a51da4-dfee-45da-9f38-06aa8fbe4d32 CAID:CA2580618260 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b01f94e-f797-4662-a2cf-85933523a547 CAID:CA2580618260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6878f968-a6ca-4088-acbb-13e0e769cb7b CLINVAR:11921 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0333e83-beb4-46e7-9319-ebcc51077b7f CLINVAR:11921 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f694844-9551-4a32-b137-8a4f882a0b11 CLINVAR:9657 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 198a634f-d6cf-4b67-a432-6696de057f43 CLINVAR:9657 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90c8c5e0-1d7d-490d-8719-8b89c75bff52 CLINVAR:9625 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen daca197e-0030-4f4d-85c5-7b534ccdf208 CLINVAR:9625 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d3fb9d-4358-403f-879c-c3f6f9539048 CLINVAR:430688 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fd5cd12-1a9c-47eb-bc51-13b26d3bcb51 CLINVAR:430688 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95bf4998-7f9b-435d-9b4e-0f192705c88b CLINVAR:689933 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cdc68d6-467f-43a9-8fa6-6eaeaad898cb CLINVAR:689933 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f04a0c1-6efe-4b54-be43-213aeeb7c782 CLINVAR:689935 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 795edf16-8613-4ef7-bfae-46b4fb4bb11a CLINVAR:689935 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3812a315-f567-45e3-aba5-c2a4a2d4a106 CLINVAR:984179 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 356ac324-c698-41dd-a0f7-4cf534d5ef0c CLINVAR:984179 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb9e70c-38d2-427a-8112-87cde73876a1 CLINVAR:557942 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6423df9a-fe68-44ac-9fb5-31569619edd1 CLINVAR:557942 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe173a4-30cb-4af5-9576-2906a07c1514 CLINVAR:1162140 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d53d343f-c31a-4178-9001-50df380ffeff CLINVAR:1162140 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 822a5530-c96a-4236-bcb9-352bd0eb3dd4 CLINVAR:496861 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0111cc5-de13-47b2-95df-4e771fd76617 CLINVAR:496861 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f30cf6-7120-4901-aeeb-fcef6065003c CLINVAR:1523621 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c674e522-dc7f-4b38-9195-bf07f06dd4a9 CLINVAR:1523621 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8e236b6-0cbd-43dc-84d3-b2ab871e0650 CLINVAR:2961353 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4eff15f-30c5-4ec2-97f9-6dc83cf69e6e CLINVAR:2961353 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f297f3c-c31e-497f-a39e-747da048526b CLINVAR:2025155 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f069246e-07d5-430e-a3b5-750b48f22a60 CLINVAR:2025155 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47008c4a-a18d-49ec-88f5-97e261bd823b CLINVAR:167191 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5415058c-bcdc-4733-a341-e77bd47ae9d3 CLINVAR:167191 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 969cf66e-9fdd-4923-ad28-f717ba7e009c CLINVAR:2203498 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19646577-805c-44bf-8c74-41bf77a18405 CLINVAR:2203498 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2300b340-7286-4a41-8ae9-062a3c933850 CLINVAR:373452 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0025f4b9-e762-4cda-abcc-7a4a94e65fbd CLINVAR:373452 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc5b6c9-e302-4b01-bdc9-75292a665c1b CLINVAR:567526 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b51ca87a-967b-46e4-8478-34db4b14aa53 CLINVAR:567526 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1275ae61-5507-470d-a30d-f18cbc5c962f CLINVAR:801414 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93da5a02-51d9-449b-947e-3de9adc18d9c CLINVAR:801414 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19158a34-9994-44b5-92cd-6740672c7d77 CAID:CA9043555 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0eaf04f-f665-4ce6-9e7c-12f1b1e6ca12 CAID:CA9043555 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b353015-d352-4a51-852a-9d996f598c4f CLINVAR:251427 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e69fd667-9da3-49a1-965c-d228c66e2b20 CLINVAR:251427 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 942ce5c2-fc0d-4d65-b2c6-aa3cb63ea0b2 CLINVAR:251901 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f8bb077-e576-47c9-923c-7c76130e2ead CLINVAR:251901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32ba5195-0693-4844-9727-22d72437d831 CLINVAR:252149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f29851de-6149-412d-9ba3-f4d44f5cdf68 CLINVAR:252149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1ff855b-a028-4cfc-8bbe-fdcb818add95 CLINVAR:252152 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5419b24c-d542-44dd-a49d-5688acd8ae89 CLINVAR:252152 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad437383-f8e2-4934-90d1-37ebf17f5754 CLINVAR:251656 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dce8948-db8c-46dc-936e-4b088c698adb CLINVAR:251656 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c24c9044-f06e-4f81-91e5-5db7ca543369 CLINVAR:1967129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2d0e133-6238-4e0d-90d8-93d76dddbea6 CLINVAR:1967129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ddb420-e782-4786-8483-badeef81c917 CLINVAR:251657 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37ee6cb0-bfff-4bf7-844a-66c2037d7bb2 CLINVAR:251657 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e674864-fb45-4628-8df4-903ec715d78b CLINVAR:252185 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca2253db-b75d-4bc9-b435-ed3321abf621 CLINVAR:252185 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581497fb-f1cd-42c2-8b9f-24cc55cf027b CLINVAR:161275 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4454e475-fc55-4841-a0ba-41c6cd25d135 CLINVAR:161275 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56e4a9a-90be-408c-be70-6a2be59400a3 CLINVAR:251567 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2660ea2c-eb4c-49f3-b943-ed3895d7d0a6 CLINVAR:251567 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cef99877-a458-4e94-beeb-2c69992a4e36 CLINVAR:475749 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 908639e9-f234-4ca6-8b4c-30a16fc2d2a1 CLINVAR:475749 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2935df2-a6ff-4622-b38c-b0a38d55d485 CLINVAR:421233 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c7cb823-dad7-473b-8332-ebb93e65a43e CLINVAR:421233 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1e1ae80-66d5-40eb-af05-498ce0140b20 CLINVAR:376857 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce6c6983-8c8e-4cc8-962e-7d78fae368bc CLINVAR:376857 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc3e5d20-444b-41f0-8149-b861ce2a760c CLINVAR:635783 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac4bb0df-9e83-4223-9f90-5987542e9a89 CLINVAR:635783 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06382f08-b6dc-4b7e-aa0a-a5eec97d00bd CLINVAR:254653 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cec86f88-7e60-4882-adf6-808c81e4ec93 CLINVAR:254653 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b486a13-7f50-4095-a8b8-94998aac2672 CLINVAR:254651 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba621e37-b69a-4118-a5c1-e06f08377331 CLINVAR:254651 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc309283-36c4-4956-a6a1-a1fc9bd38fb3 CLINVAR:254652 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09651007-5d85-44a0-b06d-a03b18da57ab CLINVAR:254652 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dba5915-1588-44d5-8366-ffe38ea32116 CLINVAR:1466744 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 697521dc-a6f9-44c2-b33d-eda27275d0a2 CLINVAR:1466744 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0134b664-0a82-4cb0-87b2-ae7d4e5e749d CLINVAR:430375 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen baa48333-d862-4f00-a9f6-e08b272f6ef7 CLINVAR:430375 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ba4d9d-bce9-4d47-83ea-a08a4a993254 CLINVAR:3587669 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00658c5c-1ee0-4eec-bffc-ff62e562932f CLINVAR:3587669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17382e5c-61f1-489f-8a41-29de8cb1d325 CLINVAR:3342643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f735a459-78de-420f-918f-6d11dc85855e CLINVAR:3342643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43ae10f4-20b4-42ee-9580-c2e8224912b9 CLINVAR:3365552 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e17ff794-4b95-4c4a-9ffe-39f2b6783251 CLINVAR:3365552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 689ada69-15a1-47a4-80ca-11b00f96b73a CLINVAR:2730693 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 538b2527-67e6-4cbc-9ce3-f8baed54c508 CLINVAR:2730693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1de9420-0d24-4a5a-9164-48290cb60d8d CLINVAR:3367906 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b6a2237-4b99-4cd3-917d-44ccca2465c3 CLINVAR:3367906 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b36bbac6-018d-4578-87c5-afb426ddd276 CLINVAR:3766477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fa996dd-bacf-41cf-86b7-f0bcfdc3a616 CLINVAR:3766477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8340faeb-797c-4f08-910c-4cdb1a08c716 CLINVAR:1878806 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 182d1f8f-a225-4d70-bf3b-ccf121db91ec CLINVAR:1878806 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1fda0cd-c98c-42d9-b5c2-06151218b41e CLINVAR:143761 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7e38e09-02bd-4dc4-8b55-290638db440b CLINVAR:143761 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c23542c-9565-4056-af84-716708e20bb2 CLINVAR:3436407 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a706c6cf-29a5-494f-bd75-e89ce3e9e185 CLINVAR:3436407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ad0c38-06a1-4493-b7d2-c36861e05c11 CLINVAR:3624665 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a2857cf-0746-4555-b52f-e4d865de9324 CLINVAR:3624665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d918930-47d4-414d-9ed7-5679ae902663 CLINVAR:3436402 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eff33da1-3165-43e5-aecb-b9f634470ea5 CLINVAR:3436402 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4301663c-db95-45db-adcb-425a4dbf3dcc CLINVAR:3607919 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6764f2d-b86f-4bb0-801c-7d4f797455c4 CLINVAR:3607919 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f93e92ff-dbd0-48c4-9476-4b8a10d75a5d CLINVAR:3363507 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e274656c-5ad7-4327-bfb3-ba90d42da1b4 CLINVAR:3363507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab84454-5fed-40f9-a451-c2cde582a679 CAID:CA410203973 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39206645-ab3d-4849-8e16-72a81c93d9ae CAID:CA410203973 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8453664a-4943-43a6-a499-0a5628a6023c CLINVAR:947774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93299540-37d7-4e10-86ae-890f5a151371 CLINVAR:947774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af93cbd4-2d84-4c00-ac9f-6c0c2d7225a8 CLINVAR:3603866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4644baa-feb5-4c53-ad1d-68defbf95690 CLINVAR:3603866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 265519f5-8049-4e35-9595-d58930eae093 CLINVAR:3240392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1aa38915-a8ad-45f1-b903-6c416537520d CLINVAR:3240392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f51ca057-040a-4e5d-a6bc-cf5f0b1bed0c CLINVAR:3068261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ac822ef-0a51-4ab2-9cf6-2d0006391618 CLINVAR:3068261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44025fa-55fc-46cb-9a1d-3ebaff6d96c1 CLINVAR:943098 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f99726e4-1d72-448c-baa2-d15dd022d764 CLINVAR:943098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cfaf8ad-8327-4b58-8851-45da66908fa9 CAID:CA2695237640 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eba68800-293a-46be-87f3-60ebcdd805f3 CAID:CA2695237640 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c511718-154a-4d58-af0b-34a6108e7512 CLINVAR:143316 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22b4c1a2-caca-4f40-8d73-48362e3bb81c CLINVAR:143316 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4612752b-0ed7-4f6a-8cad-813a0eaecb05 CLINVAR:2443586 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc26a192-c762-4f4d-bc34-e7f114ccf826 CLINVAR:2443586 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebac119b-d198-45ab-9c5d-e4c02eaf7603 CLINVAR:654655 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3b873d7-2ccb-453a-9f2c-4f97d3be6477 CLINVAR:654655 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c693f6c8-fff6-45b6-905b-daa40d89b412 CLINVAR:850287 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8f8615c-5b65-44e8-8fc2-68e945dc1052 CLINVAR:850287 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0705a8f3-39f1-47d1-bfa7-d77eb72395bb CLINVAR:236480 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39d3bbc6-dfad-4ba5-b02f-66ae79a24210 CLINVAR:236480 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920decfa-7dc7-45e7-9fb6-28ea8d686f9f CLINVAR:952461 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60e09194-e791-4079-a10c-55de24ac71cc CLINVAR:952461 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b6705f2-fa6b-4713-a0c8-d2821d24ef2b CAID:CA523302413 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a07ae3d-1d41-43c9-b7b5-0f1d35d553df CAID:CA523302413 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da6199ed-ca82-45ce-8446-522dac14261a CLINVAR:1470027 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d8e45db-9439-402d-901f-a8a42bb7c222 CLINVAR:1470027 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c144c03-541c-45db-a216-d5949d6ea89d CLINVAR:973954 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88b450a6-8ea3-4d2b-82dd-3563db1cc8cf CLINVAR:973954 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9e1c068-db7a-4efd-81b1-4ed8848be08f CAID:CA340741225 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8a66f3e-4cd7-4740-88bd-14f658a31cad CAID:CA340741225 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c76582-19b4-4693-b6d8-17f9ae144017 CLINVAR:1399221 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c4757d6-6857-4b46-8298-20092bbe66da CLINVAR:1399221 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66e78d03-b7a8-48e3-8aed-1bec8410a5b2 CLINVAR:374139 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb2fc250-f5b0-44d0-a776-8e31601e7b6b CLINVAR:374139 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2071f00-9212-4082-bd28-606ba88edf08 CLINVAR:552059 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53a4cfc6-2553-4e69-b823-fc3101f8a82a CLINVAR:552059 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9051bc74-a5a8-446e-8a61-554897cb43c8 CLINVAR:1364817 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 412feaab-2b0b-44fc-80d7-087b4f763c69 CLINVAR:1364817 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 532ac5c3-650f-40c6-9269-416c60c5b6dc CLINVAR:1177402 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bb60d19-4a2d-4450-b459-d10b5ff32455 CLINVAR:1177402 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5a5def-355d-4df1-9c50-4fd8afc6f9f7 CLINVAR:533979 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73fa4efc-113d-4b5e-9db0-c7a684642e1a CLINVAR:533979 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd875a6-cb63-4171-b831-03980bd4965f CLINVAR:530855 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bba3994-e17d-41ef-8678-b159805456c3 CLINVAR:530855 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db2c19f6-4d1b-49d3-8863-d8a013c67beb CLINVAR:158923 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbb8e7c7-80ca-4fda-8bc5-13b0bdb1431f CLINVAR:158923 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40aad947-9ed2-41db-9973-ee4d1439884b CLINVAR:164656 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80627d4a-10e0-41e2-a239-1383950d1f95 CLINVAR:164656 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f31601-414a-4356-896c-8d987b6cfe82 CLINVAR:1308583 biolink:genetically_associated_with MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66debf39-e0ce-4f02-8fc0-47585417ddce CLINVAR:1308583 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e60e1b2f-6c01-4274-a934-f9cf5405f3f8 CLINVAR:1496916 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88c808b5-baff-4c47-a6d3-727abf3ac83b CLINVAR:1496916 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f2815b7-cdc7-4908-b7c0-dbe7d7ecf0ec CAID:CA412361050 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f537d56-06a6-4d69-90f3-b96b9f20b5ab CAID:CA412361050 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b991d2f3-f623-4636-b620-c9e908411c65 CAID:CA412353168 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb99b97a-f804-4eed-832d-a88893ee1a2a CAID:CA412353168 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 428e6a24-97f8-4d4a-8863-9b03f5fc8a07 CAID:CA294589 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a40f6413-12d6-48f2-8cc5-c5bb0b1bd833 CAID:CA294589 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b62c9a98-d645-4287-af1c-dadcbe8b4189 CLINVAR:1701032 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4fe85c1-a2a1-4b23-b89e-4c45ffca75b5 CLINVAR:1701032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 978bdcf3-2fc0-4b80-ad13-5f3b6a300e54 CLINVAR:98831 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f1ece44-70b5-4204-8a4c-152fadca1f1b CLINVAR:98831 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5054decd-f472-4d75-af5d-b2f6b4f82392 CLINVAR:978981 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a68ebca-394f-45e0-b71c-eae419a84f14 CLINVAR:978981 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f95b59-c791-42fc-b40d-6cb1850ac45e CAID:CA340742778 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8333612e-8e68-4495-85de-6cd5a8c33331 CAID:CA340742778 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a7561a-6330-4506-ba6b-ff8f15a4ed86 CLINVAR:973964 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fce29024-77ea-4766-9fac-64b2dba03849 CLINVAR:973964 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2720eb6-4ea0-44e5-a484-69dda114025f CLINVAR:203579 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64210d6d-059a-4085-a34c-c932fa1cc390 CLINVAR:203579 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 109e6f0a-95e7-40c2-be3a-a78843587524 CLINVAR:65956 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91085cfe-264e-4100-bc76-808ce171371b CLINVAR:65956 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fd75d8c-84f9-42b2-babb-088bf2933e93 CLINVAR:420138 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cdadd58-80ea-4560-a9ff-7dacdb6e84be CLINVAR:420138 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa78f960-7fba-4dab-b41f-d1f6976b8809 CLINVAR:2582809 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd58c637-ae48-4e29-8182-e72e82ce6f69 CLINVAR:2582809 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c687ddd-ea01-4b41-9c74-f2bb33ff04ff CLINVAR:280732 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f6e13c9-84a9-43ce-8319-19b665f70377 CLINVAR:280732 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7a298a4-811a-4f50-8323-c4623dd63271 CLINVAR:93549 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a25fc87c-4073-44a1-a2af-f453533c0da1 CLINVAR:93549 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb5b848e-f6af-4e2c-aac1-19b5f96f42df CLINVAR:2582036 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1a40f07-af67-48fe-9e72-f0575a640953 CLINVAR:2582036 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e1f4ed8-5470-441f-95fb-f854b8b5052f CLINVAR:430393 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01a997d5-6a9f-4449-bd36-83ba8002b8ea CLINVAR:430393 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9688127-bc11-48f8-bd7b-679e31ed9c52 CLINVAR:18291 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7939a458-8686-42c9-947b-c5dea5ca56af CLINVAR:18291 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e2650f7-1073-4c56-9429-1bc4dc9c1cdf CLINVAR:18288 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34ddc24c-d914-4316-90fa-d895ab3366ed CLINVAR:18288 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe29fe80-f614-44ca-8b34-c2888bd75516 CLINVAR:377433 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 013ef743-6a02-4fed-9ecc-c0ca8f87bfe7 CLINVAR:377433 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e80a6e4-ac81-4036-abbc-18cc26f83ada CLINVAR:532770 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b24e6451-13bb-4804-931e-4126c51e98f7 CLINVAR:532770 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5742df99-6bb9-4f9f-8da0-0d23b9a9f499 CLINVAR:2572159 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12d854a8-34d8-419e-a848-f0247d8e597b CLINVAR:2572159 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18982490-0b7a-4587-9ed0-f65068e87481 CLINVAR:42098 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18260e76-5936-4891-a55d-db36a8f4a612 CLINVAR:42098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b060caf4-bc6b-49db-b9a8-ea410765cc7b CLINVAR:655896 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff48b920-91f5-485c-aca0-bebf1fcd150e CLINVAR:655896 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a9ad83d-909f-49e5-b9b1-8ad9444cd0b8 CLINVAR:497129 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd2d94ce-3f1a-4c98-9302-d86e112307d0 CLINVAR:497129 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18715e72-8843-4b01-ad64-308c569b727d CAID:CA347212124 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 031deaf9-b657-47fc-9910-208ec78085f6 CAID:CA347212124 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb53f67-cbc2-42a4-bb12-9530824f425e CLINVAR:167025 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e8ec291-f6a6-4d50-8d09-8cccbe7ed93f CLINVAR:167025 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d38697-4dc6-4324-b598-18e1950ec1ec CLINVAR:167021 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7fa8677-841a-451f-8cd0-8f89b739e9f9 CLINVAR:167021 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e018a3dd-ecb3-4792-b157-f86ebac84589 CLINVAR:3775113 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 641d1312-3f83-4ab9-8bbf-6f79e1689fe5 CLINVAR:3775113 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 909c4f8e-27bf-45d9-9c31-ad734213d465 CLINVAR:443997 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b910015-a0ae-451b-b028-6bee6f9fa2c7 CLINVAR:443997 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5671856-95e1-45ff-a4f1-81ae7a06abf2 CLINVAR:6672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72c59c30-13e2-4a61-bf63-83037037e455 CLINVAR:6672 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2192bf2-1d28-477a-a2b3-d9614d14c975 CLINVAR:1350756 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5930d32-5f02-425d-8d47-4fe46a16b0df CLINVAR:1350756 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79846a65-9537-4160-8f12-7a2a8b5aeda0 CLINVAR:217146 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2295ce4-0553-4063-965e-03a7c45da058 CLINVAR:217146 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d61799-570b-4ff6-8fac-40c3770f8c7b CLINVAR:166786 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49ae808e-577e-49e7-a6ad-b843e1fa800a CLINVAR:166786 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e3c15a8-a724-43ff-a380-a7c5a89eb64b CLINVAR:592961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b04fd64-ea6e-4cf1-a7a0-55d4b5849efc CLINVAR:592961 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec27e33-d60a-4416-9733-b3cae6f2229a CAID:CA347212126 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f202f228-a08a-4917-8a38-0ab30bc8a28a CAID:CA347212126 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3825b7a0-1107-4033-9c91-1dcb8a0d9e17 CLINVAR:290335 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7d2e526-9584-4ce8-8637-b8c686b4c2f6 CLINVAR:290335 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b50aa902-da29-4655-bc75-8091984585b1 CAID:CA414917675 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf577e69-a2bc-4f9e-8588-c8b6474ba2ae CAID:CA414917675 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2450b7e-80ff-484f-80fb-6489d45bedc6 CAID:CA414438886 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb4f22a1-2660-4e87-9e9c-42d369e18f67 CAID:CA414438886 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b08b0d47-e60f-4c84-b840-eeab4d122cbb CAID:CA414434363 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a22874dd-229b-4166-a6f5-26ba057739a7 CAID:CA414434363 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8051d060-1c10-4fa5-9ea6-6f865b513d59 CAID:CA414446705 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5437db3d-48da-4114-be97-b2dcc73e88d4 CAID:CA414446705 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1b7a90f-a985-4e31-80e7-646b45c9c948 CLINVAR:804141 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08b0e2f2-9dec-4f9b-b31c-a404bebcfbc6 CLINVAR:804141 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31714b9a-6e2d-4913-b2e1-682ef9433325 CLINVAR:627123 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 019d104a-382f-4e3a-9a0a-dc9b41017dba CLINVAR:627123 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4df5273d-0e7d-40ae-8634-f752bc37dbd0 CLINVAR:557885 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24eb1655-48a1-4537-b409-c19d6e181068 CLINVAR:557885 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d98bcdb9-e554-4415-b227-aae126d3284c CLINVAR:960079 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f9c8de8-fbed-4842-b33a-1930ae2ed964 CLINVAR:960079 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a9ed692-e27b-49a4-b45c-6069164d7365 CAID:CA355961650 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f498cba7-a674-4ce4-9808-a7b820e83c28 CAID:CA355961650 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c765c4-994f-47da-bc7f-39849a5925bf CLINVAR:11922 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 625d4f50-82de-4019-b883-d8f811ee503a CLINVAR:11922 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 015356a3-720e-416a-83ec-65e748315b4b CLINVAR:252242 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96097e8d-7d35-4729-956e-f7c41c293065 CLINVAR:252242 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 547b7e60-f512-4c64-bbb5-827437d0468d CLINVAR:226387 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f45509a5-3f3e-4286-964f-fa0fcdf83f4f CLINVAR:226387 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea43bc9b-8bde-454f-bad9-83c4694bedf0 CLINVAR:252259 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a69d3e8-dd0c-4e2e-9c44-9011b47bfc85 CLINVAR:252259 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbe74a14-274e-4423-abb6-89a9509c79e6 CLINVAR:629370 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4996fa47-4347-4630-bac8-4c96bb3edd32 CLINVAR:629370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13e13ae9-f87b-4866-a414-0db6b239a62f CLINVAR:251877 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70e8b2ec-c9d9-4760-9ec8-442e9db4c678 CLINVAR:251877 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dfcb326-5208-452f-a070-0efc24cf3bcc CLINVAR:920005 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f7db321-04e2-4c78-b349-fdf7b714909e CLINVAR:920005 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2069209d-bf9e-44f8-9a09-fb5a12286d3f CLINVAR:251843 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5f795d9-05f6-410b-a1da-7bd9f8767887 CLINVAR:251843 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d789ed5b-f5e4-4526-bf75-08c104913d3e CLINVAR:251838 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f72d9bb-4637-47fa-9096-4c445a7f77b6 CLINVAR:251838 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c825678d-8c16-4538-bfb7-0f060d6b0da8 CLINVAR:1713361 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca1cf5be-6165-4938-a4eb-d5a46004923f CLINVAR:1713361 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85e24968-7507-4bb8-b437-120d349ae90a CLINVAR:550622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a38b03a9-2e9f-406e-ada4-4ce1b4fc8246 CLINVAR:550622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aee6fcd-5566-44af-9349-6f8888812f54 CLINVAR:955458 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6f93b67-500c-4db2-87e7-811cc9be5eee CLINVAR:955458 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f834848-fa6a-4066-81e1-e236b24a0401 CLINVAR:287 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98880ace-4a41-47c6-ab30-8bf70dc35397 CLINVAR:287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222732f2-ee5e-48f1-bfcb-c25a114ca6fb CLINVAR:100312 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a87557c4-20d5-428a-9777-ff4a93151154 CLINVAR:100312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5a843aa-4e79-4e64-bb8b-b8e5ebed0e87 CLINVAR:474882 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bdaa778-4889-4bf6-9eff-d6d994dab8df CLINVAR:474882 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b720c64-f7ef-4bf9-9673-6863c6f2a2e0 CLINVAR:203582 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd619c6e-b296-4293-903a-6998bf6ab43d CLINVAR:203582 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562ddacf-acf9-4ec4-9298-cda68ec587c1 CLINVAR:3720746 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aeff8eac-02b8-4783-9a03-2643b023790a CLINVAR:3720746 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b4fd1c5-ad4f-4426-9eb5-8f8f9b8c6246 CLINVAR:2684202 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ec14fb1-7a90-484b-932e-29d7d9facd28 CLINVAR:2684202 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc2267aa-7c43-438e-972a-5b66e7a932bb CAID:CA409103833 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6281a6d6-fbd8-49b4-ab35-bcedfba2e648 CAID:CA409103833 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1604b0df-0c45-4531-b8df-2bf00ea21a45 CAID:CA2573051296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60a40560-d4d0-4c48-b8ab-0b1b21738ccb CAID:CA2573051296 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 419a40e3-0997-45b5-b670-be688cf2f5ff CAID:CA2573051297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 847aaef1-c101-4cc7-8ae8-aa4505108959 CAID:CA2573051297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f329ba-fae9-4cae-8bcb-26d751bc9087 CLINVAR:2580866 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edb084c2-b26d-43d3-ad45-e0f7f3029944 CLINVAR:2580866 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee1bfdea-6c4f-4758-923b-60ed03465ee7 CLINVAR:2627337 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae23cb18-7f15-4954-b4dc-48a5702a5f60 CLINVAR:2627337 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9122a52f-ced8-4b39-9624-faabc1673acc CLINVAR:3893273 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29bdb5b9-3b70-4042-8ee9-deb0896881ea CLINVAR:3893273 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57f186cf-a916-4163-8e17-f1d8322cfdb3 CLINVAR:2136527 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96df5671-5e8f-469f-9816-a01f152103cb CLINVAR:2136527 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e29f2fb-baa7-49e8-809e-2c1f54a8a2b6 CLINVAR:3893274 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 230016f8-5bde-4c4d-9a66-50205da4254f CLINVAR:3893274 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85171214-834d-4642-beed-bd66886e5c73 CLINVAR:994611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edc0015f-4dfc-4767-a926-16279c53d700 CLINVAR:994611 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 338f04b5-263b-4ae4-8087-b1b75d1a6c7c CAID:CA386960397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ebc25ef-035a-4bfd-afa2-c2fc7d5c3a65 CAID:CA386960397 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21f5d811-05d8-4010-8594-037426a1c108 CLINVAR:763076 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cc52005-32e9-4a8b-a767-e44bece293b9 CLINVAR:763076 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdffed8a-789f-4aa5-9729-cdf37b9addba CLINVAR:1494029 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83e15b82-1b30-46f9-a781-c552e47521f1 CLINVAR:1494029 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 623b2393-de40-4623-b1e5-d1e566aa8b16 CLINVAR:102829 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c130876c-07f0-4367-aca8-669d9f61b558 CLINVAR:102829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fccae25-c2dc-4340-80f2-622a418e99a9 CLINVAR:102828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12b50104-b6a1-4f22-ab35-6683eb139605 CLINVAR:102828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6185679c-a0fa-48af-8890-6774387dc19b CLINVAR:982109 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 237ddd7a-18a2-40bb-b3ec-cda87aaea25f CLINVAR:982109 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c943fda6-0685-47d6-ac13-d0f25963ac32 CLINVAR:3893280 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0535b3bc-4791-40a2-aaa4-38934b9ef98e CLINVAR:3893280 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f074f2a5-6fd9-4f6a-a015-607a6444b25d CLINVAR:972780 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38ff43d2-1546-4c02-bf98-79f1dad60fe8 CLINVAR:972780 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e758673-e544-4d58-b57d-4593e3719969 CLINVAR:972770 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 554bd8d8-2979-46aa-ba5e-d711720172ae CLINVAR:972770 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c557e405-e22b-4a04-9625-6a15a13bcae7 CLINVAR:2735983 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87d73544-dd3a-4c3c-99ec-8d325a5d60fe CLINVAR:2735983 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03d87378-f933-4aa0-b16c-efad6120af5c CLINVAR:3893277 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20604a27-283f-4c4b-a534-15c880455962 CLINVAR:3893277 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e8e0f9-8943-43c2-b71f-f3684a149b04 CLINVAR:3369823 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8fb7daf-4442-41a5-805c-2ae4c0f8183c CLINVAR:3369823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870e10d0-2f6c-4a03-a409-a58187ac4045 CLINVAR:3893276 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad1ddb41-edea-4752-9524-5f34185c1276 CLINVAR:3893276 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f59697fa-6b79-4763-bfaa-17e1936423b4 CLINVAR:1184933 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a0c4396-c705-47da-9bff-77e434854e84 CLINVAR:1184933 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e941031d-283c-4391-8454-326e155a81bb CLINVAR:372684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b76d6d15-d985-42de-8ca7-68c72e3de09c CLINVAR:372684 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa265895-43f7-48b2-b2fc-d8a19f0153d4 CLINVAR:251013 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f053532-4607-4188-b42c-687fec88acd8 CLINVAR:251013 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca1f2a99-f814-49af-b5e6-25c6ee4e9888 CLINVAR:206972 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26dff83e-1231-42cd-b75f-e08749a4a79d CLINVAR:206972 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 690a6293-0619-4938-829f-d16fb2726f08 CLINVAR:2435687 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e4ee03b-cd31-4166-9ef8-5ae19c131506 CLINVAR:2435687 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f294721-7bfa-42d5-a653-8265c008ef92 CLINVAR:894363 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d98cbfe-0399-48b9-8eca-4944703f4a9f CLINVAR:894363 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b483809-df31-4f13-9f74-936ba1bf9ecb CLINVAR:541724 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2994064c-a1c2-40d6-b326-13ab07745a23 CLINVAR:541724 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a50167-8f2e-4404-9ec9-192dfb52a591 CLINVAR:1496514 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5926abd4-2398-4100-8207-b2a76e136e81 CLINVAR:1496514 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c9af3a9-cb0c-4e0c-86f6-464f239ec09b CLINVAR:9552 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d51aad0b-48f0-4b42-9a72-cafe517ce0f7 CLINVAR:9552 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ba7b9f-4252-4836-938b-7e003b0dc11c CLINVAR:9551 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 255fa56c-92c8-410e-b518-2f29571f35b9 CLINVAR:9551 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85aefbf6-9bbb-4a6c-93ef-106021027b2f CLINVAR:9562 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a967747-7550-4002-a92b-55ba0bfdc2d3 CLINVAR:9562 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1043645f-c505-475e-8135-e052f631413c CLINVAR:3899317 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0abde8ca-8171-495d-b0b4-33eec89b0b67 CLINVAR:3899317 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07371833-a773-4a05-9e06-937363795bea CLINVAR:425907 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e31937de-5f6b-4a67-a9f0-9cd3c14ddf0a CLINVAR:425907 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ad4999-bbb2-40f8-8cdd-2d142469c93b CLINVAR:425912 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9a2e277-3370-4a96-8057-72a1c69dac41 CLINVAR:425912 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c354e67-23a6-4564-919e-67fc6ad0f81e CLINVAR:425913 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b29a1198-43da-4be2-892b-538eb83738f4 CLINVAR:425913 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97128b1f-2e6a-42da-a715-e77107622f61 CLINVAR:425914 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eff37038-4b95-427a-a989-e119c32b5ae9 CLINVAR:425914 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4cd29d2-02d3-4433-aaad-50af0985df5d CLINVAR:440534 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb0f15bd-139b-4426-9eca-f4b315817e82 CLINVAR:440534 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb2dc3d3-1799-4449-bfab-71da3bfd6198 CLINVAR:631470 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89caf443-de7d-4450-9167-23ff3959f7a4 CLINVAR:631470 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d01d94-7d4b-4628-9a9f-c9e8a8f709e6 CLINVAR:9639 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3e68883-d674-434f-b8d5-ba646636a1a6 CLINVAR:9639 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d4f1e66-4c44-495e-a957-66c033620b7c CLINVAR:9648 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 642004ef-de69-4836-a091-138e7fedb648 CLINVAR:9648 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de3bf671-89b9-4ffb-9e57-04e90ab45300 CLINVAR:9594 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c336c63c-4d12-4ff0-8591-3d15b5ea6a58 CLINVAR:9594 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86a0240-4420-48c9-a14e-3c3befc728b8 CLINVAR:689805 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9af93087-0337-4a5c-b161-efa98d3442f9 CLINVAR:689805 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2237f20-da2b-4305-bd69-5786abf1515f CLINVAR:178943 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5eda5fd4-3b79-4b5c-89bf-7fc772fedce1 CLINVAR:178943 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5832f05e-6940-4bd0-a4d9-93aeb2c81ce9 CLINVAR:40885 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a69b2e5-454b-4a19-a303-fa6e60e38e31 CLINVAR:40885 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e789288a-9cf9-4baf-9d7e-729c7e200dc6 CAID:CA3046583529 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0925995c-9712-4275-adc3-1cbdf566e4cc CAID:CA3046583529 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6915aabc-6f3b-4f39-a35b-1d85306500cb CLINVAR:16039 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8e217f7-0e1a-4f70-8879-991525dad168 CLINVAR:16039 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9539f00e-1e47-44c3-950d-803c3933db0f CAID:CA2635578680 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb3451d7-c5aa-42e4-a7b2-7a777beeeaf9 CAID:CA2635578680 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0922d884-e78c-4b09-b1f7-025a52c46b0b CLINVAR:2736404 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96e667f9-37df-4f85-9f2f-4ed20592be9a CLINVAR:2736404 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e490668a-70cf-40e6-9956-d3499fca68d0 CAID:CA397318655 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b758b823-9d6a-46d0-9ef0-8624ae51458e CAID:CA397318655 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed5ef236-1cca-4a87-a9f7-0cc336025a04 CAID:CA397318711 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77a62b73-575c-486e-a821-c784aa7b1637 CAID:CA397318711 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f772c9d-04c2-4069-a157-2da6ef048a16 CAID:CA2695224152 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 901fce68-a4de-4640-b348-fe9830e139a9 CAID:CA2695224152 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ec83954-af4e-47cf-af26-93ec44885db1 CAID:CA2695224153 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edb9f843-542b-407f-be33-3882c6aed1d3 CAID:CA2695224153 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99e3c0ef-fea6-4189-91ff-0abb6c31114e CAID:CA2695224154 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33e3c475-c155-4548-8faa-e2ba876ee4cc CAID:CA2695224154 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d15456-828d-451b-b4c4-e25946c5a6cb CAID:CA354449503 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0eec95d6-ae80-4925-8b99-a4eeace4b3af CAID:CA354449503 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c2d17a2-8362-4ab9-8f20-c195982c4ca5 CLINVAR:3725077 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f076033-9b44-40bd-ab54-2913416fa4dd CLINVAR:3725077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46d73e24-5670-44ba-a130-4a41b543accf CLINVAR:3650680 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 330090b1-ec30-44de-bb8c-147803da35d5 CLINVAR:3650680 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb37f11d-1e80-4e2b-800a-0584e61b42b1 CLINVAR:3650681 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06347bf0-dd98-48eb-a103-f9f3b8c8d8d3 CLINVAR:3650681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ac5352-69ca-41da-bede-1dffbccb78b3 CLINVAR:3668347 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dec40afd-2943-4f1a-976a-8becc5b8bc85 CLINVAR:3668347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06138420-7b22-44c8-b97c-fe762a6f06ce CLINVAR:3768410 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7f51b30-b52b-4101-9dc9-25658c234591 CLINVAR:3768410 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1644503-cb6e-4936-9388-5dfdb3e05401 CLINVAR:3662819 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5ffb71d-f8d5-492c-a224-23a03fa5f708 CLINVAR:3662819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a13f6e0a-c06e-4bfb-a73c-d9c098aa1712 CLINVAR:2813100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c313bcbb-ec06-4d81-ac61-cc48d345e332 CLINVAR:2813100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e4b104e-0421-4258-b735-46576d6b633a CLINVAR:3656666 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0746ecb1-0f1a-4e04-a952-6d6a0aab4f3c CLINVAR:3656666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 141e53bd-3d29-4c60-986e-b694b3e21c10 CLINVAR:3772099 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39ece576-bd54-49bd-98c2-3d94c591b428 CLINVAR:3772099 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cfc6d41-d07b-4851-a884-f265af6cd6a5 CLINVAR:3663825 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af5803d5-23c3-43ea-bc0a-bc417c8f02e8 CLINVAR:3663825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5340005a-2795-47b4-8863-73bc460ae1e4 CLINVAR:994410 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12131835-d1c8-405e-a703-9b643ffe678c CLINVAR:994410 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 701276ee-aac4-45a8-8c6c-1b366126aef3 CLINVAR:3587670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5be523bf-d087-4683-938a-ebf50625318a CLINVAR:3587670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94e28202-e32a-49cc-b44c-a26af3bcb7a2 CLINVAR:3674110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 600d25a0-e255-4576-8655-08b2ce99cc90 CLINVAR:3674110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d96c937d-350d-43ec-b41c-c6f65c9733bc CLINVAR:3653535 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6057852a-8db7-4d23-b2d7-f322c69497c6 CLINVAR:3653535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d09df38-d3a8-4075-a6c9-0985ae3b038f CLINVAR:3638768 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 002610cd-ac12-4852-97d6-07c6fd2afd42 CLINVAR:3638768 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff97809-632e-42d0-acf4-e0a7be81907c CAID:CA414917674 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6ba668d-c690-4198-a5db-047a50eca700 CAID:CA414917674 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 889918c3-ee7f-4dc9-abd1-541878955a5b CLINVAR:3672603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5ddbd8d-cb0e-4ae6-aadc-492fb745a471 CLINVAR:3672603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb47997-0e11-49ab-86ad-090fb3100942 CLINVAR:3647941 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e27efa21-c594-42ef-b81a-fbb18198bc0b CLINVAR:3647941 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3cd2a10-f066-4456-8cd6-cff8b20012e1 CLINVAR:3666186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be55b18f-d991-43e7-9294-197dd7627bb3 CLINVAR:3666186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e13ea10-5c31-450a-8682-f3077186d0fc CLINVAR:3671857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a3a816b-6f4b-4956-b78c-66d3928ca692 CLINVAR:3671857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e47cc608-b376-4bc4-8ff7-43e39a006370 CLINVAR:3677909 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afc06801-f6f3-43f9-bf91-fe62a0b322e8 CLINVAR:3677909 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca6323a8-34ca-4f4e-8f09-753aafd918b6 CAID:CA414910923 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a352dc41-9b8e-4262-963b-5b35c05dfb7d CAID:CA414910923 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d74e413-2337-44da-bcfb-3ee3c245e345 CLINVAR:3661791 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a24dc67-d6f3-42e1-88c9-f8c9929ea7a3 CLINVAR:3661791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ad1863-1dba-4602-af79-65c8c48fd43f CLINVAR:3727697 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ba5c036-8a5b-4ac5-8d1c-80a92f481613 CLINVAR:3727697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f25395f-8972-49d3-aacc-f2d08e80f827 CLINVAR:3651897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 152527a9-4bc1-4295-9b8d-ddf61aa0a118 CLINVAR:3651897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06f72236-a01e-4499-99d0-7aa9506721be CLINVAR:3727827 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6d3d4a2-3ffd-4ae6-9835-0e932950df6e CLINVAR:3727827 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41301da6-279d-448e-b1d6-a907624f7320 CLINVAR:917689 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2f86419-adf9-4b7c-a076-96a18d0b540e CLINVAR:917689 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 570548ac-1d2c-4135-ae64-b6a8d504a001 CLINVAR:2840670 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb1d8eb1-3227-43f3-ac76-207c9d860533 CLINVAR:2840670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8518b2e6-efd5-4104-9702-646ece4d33c8 CLINVAR:3693271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3518bae-d577-4831-b96c-67bddfd2fb11 CLINVAR:3693271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f81bd9-3af9-4c4b-8cc0-e0afbdc65fda CLINVAR:3618297 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d15c0abc-4aee-497d-b7fa-28618bccefbe CLINVAR:3618297 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db109227-d185-4253-97a4-fa61796c1447 CLINVAR:3642848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8583d06-b3a0-46e4-ba30-b92a83fdd23e CLINVAR:3642848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77029839-5a21-43c1-adf1-b4a9bf5c0f91 CLINVAR:553131 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a63969f7-9737-4bf3-92eb-58af4036850e CLINVAR:553131 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6443b88a-ea24-43d3-b191-7eef8ceabc56 CLINVAR:1321357 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 852ea3c1-705f-4ad5-b753-298a97fd1e97 CLINVAR:1321357 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c50926-5adc-4664-8777-154ac15583fa CLINVAR:754391 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1872d24d-ad49-4e95-8f34-060cda491e5a CLINVAR:754391 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e6df00c-61e2-47d8-80d2-ee56be8c2cf8 CLINVAR:222993 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6751f6ac-de99-4b79-976e-a5ae540d1166 CLINVAR:222993 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07725eea-4a35-4cc1-915e-de2140bec76a CLINVAR:1323092 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87721af5-ead0-47fe-a697-6031734a287e CLINVAR:1323092 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4617523d-4dc0-40fd-90b3-9df6049e0a90 CLINVAR:3906898 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0a92d2e-0f48-4725-b11b-36595ca0be9e CLINVAR:3906898 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 808632e4-edb3-4511-a82e-38e01c12eb9c CLINVAR:2734632 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b05a3850-1277-4e10-a3ef-948d4afba098 CLINVAR:2734632 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55db8761-eb41-47a5-bf9a-50be39cdad58 CLINVAR:1518010 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef81c387-5e18-4ac7-a416-6542e66028b6 CLINVAR:1518010 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a971cb80-da98-4c9b-aac3-47a98a977ba3 CLINVAR:425916 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f6a9f0d-54e0-48ee-8b97-37ce3db24733 CLINVAR:425916 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d12f17-86c4-440e-b35a-49aaeb128d84 CLINVAR:425917 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49e8c755-e8a6-4d9d-abfa-2e822151d607 CLINVAR:425917 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8df6a32-2ce1-4756-bb79-8282bb7bedf7 CLINVAR:428193 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22ddb34f-92fb-48db-ab9a-0704ea8fc184 CLINVAR:428193 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99f24b7-d3b2-4718-9afe-51eaebfa4cde CLINVAR:929236 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff9c0abb-9f45-4bd1-8b88-b2aaa7d04ffb CLINVAR:929236 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e12d5f-ab8c-439b-a0a1-9aee87170cbb CLINVAR:846228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56e75102-29cb-4df6-b98b-c4b245730a2a CLINVAR:846228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbea1949-ba86-45c7-862e-386303e9eaa3 CLINVAR:959950 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3e20850-12c2-4984-80fc-3d7f3035eaf7 CLINVAR:959950 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb0ec218-e675-48be-94af-b6efa9fd3f4c CLINVAR:526532 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ad49080-087a-4322-acc9-0adcbc89bdaf CLINVAR:526532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe6fa75-73b4-4715-a768-b984766e2bba CLINVAR:1684005 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21220f5b-5d83-4806-a738-04fc3f437124 CLINVAR:1684005 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27a94791-3991-42aa-96e9-3064db8582b7 CLINVAR:100398 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d4621d1-bd81-4532-8c9f-192720fd8eba CLINVAR:100398 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02044203-3fbd-4d9b-a214-7cd45c5f1f12 CLINVAR:541725 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6802a5c1-64a0-49f3-81f6-42cbd1e5454d CLINVAR:541725 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce729ed9-d968-431e-b133-6c985effd608 CLINVAR:1021968 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd507b25-1880-4629-b3b7-e18d889a0cb5 CLINVAR:1021968 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc547e44-962a-4a67-b8c5-a323f118a8af CLINVAR:1691250 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b43a75aa-7b30-48e8-92f0-d18b867efb32 CLINVAR:1691250 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc50504c-66d5-4e51-807a-daeac53484c1 CLINVAR:1684012 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88d0909f-3154-4157-a373-539448efa3d2 CLINVAR:1684012 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49702b44-021f-4ff6-a07e-25665ec32813 CLINVAR:100269 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ab9c3ba-ee98-4bf9-aa1f-584eb0ae5c77 CLINVAR:100269 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d0f4b17-7bd7-47ce-9d5d-a9247f3bd756 CLINVAR:626960 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2deb9dda-9c4c-4c5d-a323-3a9bd103eac5 CLINVAR:626960 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a282f5aa-8d9d-4bff-9c44-4dac563d1dbf CLINVAR:1684483 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4965a96f-15e3-4792-a565-83ee390d1714 CLINVAR:1684483 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd6b0b3d-6976-45e2-985a-b20a1f9de13e CAID:CA397318622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c177cc8-2f0a-4cea-be36-93149390b636 CAID:CA397318622 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d2fdb23-2d6e-4df5-aaa3-66d59e4410fc CAID:CA2695224141 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43f35c88-2c5b-4a89-bac0-90413c044ce3 CAID:CA2695224141 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7582caa1-0db3-440b-8fc3-83c52a8337af CAID:CA2695224140 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0bc78e6-6466-449a-9cba-c3092d1825d9 CAID:CA2695224140 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b7137e3-9a8f-4119-aaa6-9ce354f464d2 CAID:CA2695224138 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 889137e7-7335-4275-b113-5908d378c76c CAID:CA2695224138 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4675c1f-d739-4a7b-a12d-139e75d7fb17 CLINVAR:438884 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e951910-4fd3-499b-81ce-f7cb83b9f439 CLINVAR:438884 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3b3cb39-1a7b-4803-92d7-215554b877e0 CLINVAR:689818 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b57a1693-0a2a-4aa8-8e72-ae90164f1f3d CLINVAR:689818 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1fa47c3-f0fb-468e-a098-8b641f6d42f6 CLINVAR:689852 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eeb05d56-142c-4a80-b900-f11675236135 CLINVAR:689852 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2c516e4-d4c1-4f85-81bb-be09dafe808e CLINVAR:9549 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14ea684c-dc53-4d0d-9f23-4cda31d5a7ee CLINVAR:9549 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03025159-2bef-4e27-9fea-ec5cecccd732 CLINVAR:690050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2972312-f546-487d-a704-b5d3a2624d32 CLINVAR:690050 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f90de2-ba9d-4e27-9d6f-d03a2c4f663b CLINVAR:9600 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a271f5b-23fe-4d4d-9fe6-eba70709f129 CLINVAR:9600 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce2410ce-ef48-47ae-bbe3-5bb1ac3ab442 CLINVAR:690070 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f12e2775-f8b7-4830-bc77-f33866b88cbe CLINVAR:690070 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b69423f-47e6-480a-baae-4c9695ba9f6c CLINVAR:690126 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dca55d0-38cb-4dfb-bd25-a0e0b4c23366 CLINVAR:690126 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7912336-bebc-4053-aef6-39444a318bff CLINVAR:689870 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93a99875-a2c9-4bca-9cda-29d98de73d23 CLINVAR:689870 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 985ff58c-b6ee-4125-8f13-36ad620594cc CLINVAR:289571 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05107728-520a-4ba0-b756-ea03331f4925 CLINVAR:289571 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 758f59e9-64d8-4a1a-93ec-d16555277417 CLINVAR:288438 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1abe81c-2a7b-47a2-a75f-e9dc76e38ab4 CLINVAR:288438 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b1c6c94-9abf-4290-bf4f-b057cd773791 CAID:CA2832612269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1391a35b-7a65-4f4b-b291-b1ab784d8630 CAID:CA2832612269 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9df7645-15fe-47c5-9b82-891e66ba97f4 CAID:CA2837582287 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc20b544-6e01-49d6-81ee-7385e4ad2507 CAID:CA2837582287 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1170f3-28df-4270-8464-0bfba848fe6e CLINVAR:94344 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad1e3fb9-c107-4ba1-a9cd-3ee429992f3a CLINVAR:94344 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48bbc68a-2be6-44e0-8aa7-d6c21552a6d9 CLINVAR:646166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 996ed250-6338-4fae-84bf-4ec5132322b7 CLINVAR:646166 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79eb6d5d-0e70-4a32-85e3-cac3a9a3b89c CLINVAR:2912979 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dae3f2ff-5a74-46f1-b34e-39e4fd9bf770 CLINVAR:2912979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76626100-33e6-485e-a7c4-7966fe38bf6f CLINVAR:94330 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 549a4fe4-5d3f-4122-8220-6c6f4d861688 CLINVAR:94330 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0177ba57-cccd-44a3-a94b-411507da9580 CLINVAR:197217 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5828f63-e2be-412f-ae79-2b0b2a7b200e CLINVAR:197217 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ac0d5d-0b23-42b6-a5db-8f7fef742ab6 CLINVAR:94262 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82e34c41-8679-415a-b78a-151d6ba660df CLINVAR:94262 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 542070f1-961b-4874-a930-e9badf64fd1b CLINVAR:808764 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2aad911e-086b-41c0-96e3-d2e35742eebd CLINVAR:808764 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f4512cc-8655-4155-a776-0f4a4803f048 CLINVAR:281072 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0659043a-8539-4c4a-bad4-3f26ced5acf5 CLINVAR:281072 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ba03526-6ca9-433d-bff7-ab993b6d16f4 CLINVAR:468648 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e936adb7-1cee-474f-b616-f19579442f45 CLINVAR:468648 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c53cc7a5-b546-46da-8650-832893d29686 CLINVAR:17613 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c0f0e25-5945-4763-ba2e-eb8212ba2aaa CLINVAR:17613 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53637f75-9126-4cd0-a8f6-2d4ef99b51bc CLINVAR:497565 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c9f9d12-4b76-4360-b2ff-faac2cb00d83 CLINVAR:497565 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b46e692c-cbcd-4633-acc9-32d0b700dfb9 CLINVAR:94324 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d1ea7fe-5ab8-4594-a1cd-ad9f7957ff3f CLINVAR:94324 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb8e8bb-1e88-49e7-82c5-177dea57d3ba CLINVAR:94317 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5ec576b-9183-4889-b18c-0f022449dee2 CLINVAR:94317 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d91bacd9-abf9-449e-b915-92664736de28 CLINVAR:281197 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ca8578a-b965-49e3-b2a7-1dd054b5fb66 CLINVAR:281197 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb91839-a8b5-4083-abde-cea5cac03872 CLINVAR:2424693 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 340482a9-445f-43d0-91e4-96d8d82e4bba CLINVAR:2424693 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a34474-b042-41f9-b555-d6d19139af7b CLINVAR:486792 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e566b1d-91bd-413d-bb55-fa38d41372ce CLINVAR:486792 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27be9b18-8033-4adf-add1-150a9986db14 CLINVAR:141515 biolink:causes MONDO:0021055 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 048d3882-af82-41b5-8d49-5868cb84643c CLINVAR:141515 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 032adf68-0819-4eec-b6cf-099ca3600d18 CLINVAR:246402 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d909a416-8ddf-49be-b2f1-e8051a9d4b5f CLINVAR:246402 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 492d043e-b3fd-4831-bca4-65800ae5c011 CLINVAR:265372 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f74f405-5a38-45d3-9fb0-c42435616c85 CLINVAR:265372 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8788a65f-a947-45c8-b2bc-7f1be7232e7b CLINVAR:822326 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 720a61c5-ca05-4c4c-967d-12c6753c9b5e CLINVAR:822326 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a4c9a9f-03d9-470f-b1c9-9a2a81401e82 CLINVAR:1319598 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34949a5d-94e1-4a3f-a880-ed5a13426ae9 CLINVAR:1319598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a00afb8-da0b-41e4-998d-37d7b8638f62 CLINVAR:1025291 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2886cf06-61b1-481a-be22-2cde6a3605fe CLINVAR:1025291 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83fcffdd-e5f5-41ed-8fd2-67f2eabad5c2 CLINVAR:485146 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77b8dbdc-ae0d-4963-9438-dcf20d936977 CLINVAR:485146 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e678db8a-66e9-4779-a37f-2ecdf4f4878f CLINVAR:231954 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcd43cea-b9c9-4136-b93b-beb658fc2a08 CLINVAR:231954 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82ed8cd2-abaf-4eee-8191-e2d7a70e2dc2 CLINVAR:233890 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 058b887e-e5bd-40b9-a812-db6db3dc96dc CLINVAR:233890 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 250b0a10-db3e-41c0-abac-a2d36e7c21f9 CLINVAR:576816 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9d3ed63-c5e6-437b-a347-d080028d3a42 CLINVAR:576816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b574fcc-fb2d-42a4-b453-8ccd5b71af3d CLINVAR:411406 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f086639b-8776-45ec-ac31-dee92fac5d61 CLINVAR:411406 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c30f51-375a-41a4-b7b4-405ef987469f CLINVAR:185659 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38260393-ed78-4dbe-8bef-11e96e523b8e CLINVAR:185659 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6883629-4ebd-438e-971b-9db642789173 CLINVAR:653103 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b08ca6d2-77b4-4b7f-bcb7-0005173ee137 CLINVAR:653103 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 246fe89c-17b7-4ba2-a995-e2f5313d3c2d CLINVAR:3900733 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 600c1e0f-cf2a-4555-9b26-c0f592cb3481 CLINVAR:3900733 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93aad296-fbe2-4021-80e4-06280156b208 CLINVAR:693373 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12e09827-a243-4070-bd17-a623958d81aa CLINVAR:693373 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d65f3ca-9003-454c-9465-513e4017ea0f CLINVAR:11925 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f76965d7-bb6a-4ae5-82f6-ba27ec99706e CLINVAR:11925 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ee85bc7-072b-44c2-aafd-257a9270c205 CLINVAR:692983 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54e1b397-6387-45a6-8cbc-ecf4e2aabb1d CLINVAR:692983 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f62d52d-1d8d-440e-8a44-38660e7b39e5 CAID:CA16022700 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bce49d16-abb4-41ec-afb3-81a25878daed CAID:CA16022700 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 663a1019-343a-4467-98e9-2daa3ccad895 CLINVAR:827255 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73a24b03-e49f-465e-bd9c-72bf91210405 CLINVAR:827255 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 209391cf-38e9-41d6-b5b2-8ecccaa131ac CLINVAR:648862 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfb1253d-4c2b-40ab-a51a-85cb9362ac98 CLINVAR:648862 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d370732a-d49a-4f67-9670-096697ee0c70 CAID:CA2695201659 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61dfd456-e4c2-4e40-9e4a-d51560b93e25 CAID:CA2695201659 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e44d67-f885-4a54-bc21-8127b5622ee3 CLINVAR:654864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78852fdc-ceff-41f6-9ff0-4c85791b575a CLINVAR:654864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d618acd-4b1b-4df4-90ea-2085d0b38e1c CLINVAR:537529 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23cdf935-3957-4fa8-b864-94c30eacc9da CLINVAR:537529 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f481be5-5759-4ba8-bcb3-a5430f57bfd5 CLINVAR:217924 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c7d84d1-c7f8-4b72-a5e9-461558bb60ae CLINVAR:217924 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed50f1bf-cf93-4e80-bc39-9f7c1d1fd914 CLINVAR:690113 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5a006c4-cba9-484a-a0c1-6d1fb1932a59 CLINVAR:690113 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40cd982a-b711-4054-9fca-b93170576723 CLINVAR:411416 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac0d091f-dfb5-4de7-96c1-2bd1a9b91ab5 CLINVAR:411416 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e1a3fd-01ca-4f84-bbab-d8855c13aa74 CLINVAR:279681 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90577047-846c-440c-8ecb-23311db19f32 CLINVAR:279681 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 091b0396-5b0d-41a3-a7c6-5d1a169d5f65 CLINVAR:127305 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80930b84-6c32-4eda-8ec2-92d9e91c4174 CLINVAR:127305 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f346f13-77f9-436e-b816-a2a46425192a CLINVAR:230520 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06158f18-b548-47ae-a529-4a786dd751f0 CLINVAR:230520 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d44317b8-8312-402e-b45c-ec6ebd5565b4 CLINVAR:428166 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e639fb91-36e9-4ea4-9338-6e2cae1d8098 CLINVAR:428166 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00af9596-7bcb-4c0f-b307-9906b46a596c CLINVAR:690177 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ea94625-1b0b-4c43-b3aa-a133403cee9f CLINVAR:690177 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc464c5b-cc65-4101-a9e8-d712d0717b03 CLINVAR:925741 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15d3c69a-f250-47e9-b410-b0629bc5c51d CLINVAR:925741 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5e20130-85e0-422f-9d86-f9fa9000e0c5 CLINVAR:469955 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b843880-f1e8-4efd-8d12-3ea846c4bf23 CLINVAR:469955 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b4594a-4e7c-4906-9674-b3966e8205e9 CLINVAR:693513 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e7da372-1579-4375-8934-3c7244f72e25 CLINVAR:693513 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 418f1ae7-9bcb-4635-9347-2ee754d9604d CLINVAR:184702 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19035e2a-77ca-4054-b7ee-c69c29d09096 CLINVAR:184702 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b1771d-4aae-4012-9bf1-cd26013945d9 CLINVAR:433614 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23d6c65d-8810-41a7-901f-a344ac7c2ae9 CLINVAR:433614 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8aeedf6-29ec-4c1a-afec-46188a06ca4b CLINVAR:411368 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34750721-a16a-46dc-b711-4b8828166994 CLINVAR:411368 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d90f3591-7f02-4636-b848-087bd9b25364 CLINVAR:42248 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab65aca7-c289-4dad-8345-d9b8443887b9 CLINVAR:42248 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0022a11-8442-4ba6-8c05-86048e20d5bb CLINVAR:1361956 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffca80dc-429b-4f9c-a97c-4e45ecdf02b6 CLINVAR:1361956 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e47e8703-958a-4258-86fc-01ad4a6489cf CLINVAR:2583432 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab83c34a-ec12-4d5f-b07d-60bf7455f0be CLINVAR:2583432 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30225e1c-b65b-4758-bff2-a2a21b05b624 CLINVAR:2562354 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4543ff51-26f2-4b2d-a8be-a0fece6895f6 CLINVAR:2562354 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dced728-4248-41ff-9d8a-65684d253b20 CLINVAR:2773776 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 482d1719-21ae-4623-9687-67dc0d3a9cce CLINVAR:2773776 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a67502a3-3ce5-4c29-bf59-79a2b7535cc4 CLINVAR:1050028 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c05ea63-d31b-49b4-9444-8d02bf99bff2 CLINVAR:1050028 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80be11c7-61e2-4628-bfc2-907a0a6ec62f CLINVAR:3892980 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 448bd413-9da7-432c-bd62-f1c1f784a56c CLINVAR:3892980 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a33d449-978b-441d-8d5e-11ee8c61b732 CLINVAR:824696 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08abfd4d-74cc-447e-a29a-b4301e3763c7 CLINVAR:824696 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b2c3fd4-908a-445e-b39b-fd62e71abe89 CLINVAR:411479 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c763be4a-435d-4a45-b30a-b08a6c8851ab CLINVAR:411479 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ed4a7b-cfd6-409d-81e4-fddd9b8af435 CLINVAR:438865 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7108f74f-4143-468f-ad61-b512ab21a70c CLINVAR:438865 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77e0976e-e5f2-491c-b963-7f6784caa6ab CLINVAR:183857 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdad4a9e-28c7-4452-9e1e-d619823562b9 CLINVAR:183857 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcabf25a-0d5b-432f-866f-48b5623f3a6b CLINVAR:934724 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffeff66c-9686-4d0f-8f52-d32fcf32a749 CLINVAR:934724 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e75291fe-11e2-4ede-9818-680e91e3502c CLINVAR:1056286 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f758fb2-f6d8-4489-b750-17590a6d2129 CLINVAR:1056286 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43441ca5-b3c3-47fb-abe9-e0a34d72bd3e CLINVAR:946475 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e02f1b2-aada-4423-8a91-741c4c194151 CLINVAR:946475 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d01c5f-0900-4d72-b79f-6105b0ff38fd CLINVAR:1342107 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b53337b4-f1e3-4a5d-b9c3-93de73be3b01 CLINVAR:1342107 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f61147f9-bb18-42a7-a3f8-6fa2946b8646 CLINVAR:866404 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b439f524-3c45-4e4d-88dc-44c186cca1a8 CLINVAR:866404 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84bb75f1-0716-450a-a2d6-f0eec6cd04ca CLINVAR:423184 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22589a6d-c85b-4243-9c49-512668129123 CLINVAR:423184 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72712e07-c049-49f2-9cc7-4a1f7814e1dd CLINVAR:68077 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04250a76-0a87-4d01-b57a-15ca9a3f9034 CLINVAR:68077 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f82b4843-c92e-47f1-8779-b590ad14ab9e CLINVAR:371642 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1559e18-7513-473d-8eb4-2af808b5735a CLINVAR:371642 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef0fc941-f78c-4e36-9628-443890fa4bb9 CLINVAR:372497 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b7bdd3e-f17b-4f82-b0c2-24008b9db415 CLINVAR:372497 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b957ec0-cebd-4d30-a690-304c2ee988cc CLINVAR:99014 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aca7ec86-8607-4d3b-8bba-4c52d780c355 CLINVAR:99014 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ae57a2-6b76-452e-ba66-bddfaf9df0d0 CLINVAR:98996 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82981b91-54dd-47ae-8c43-6d0bf9f0c708 CLINVAR:98996 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d71e7303-7336-4b68-b2ba-7d07e4f5b9ef CAID:CA412370589 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0922ec20-f221-4b7a-98fd-f1d8fea56ef9 CAID:CA412370589 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3971ca-96d6-4fcb-81bc-a824ea54d884 CLINVAR:279886 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b077c2a0-f762-459d-9ccc-6ad2e2953713 CLINVAR:279886 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99760aee-819e-4adf-9584-635da8dffb42 CLINVAR:370754 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7e528e4-f68e-4b89-ab87-23be83e0ab87 CLINVAR:370754 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8767d7a3-aca2-4090-aed9-53aa2859ec43 CAID:CA412371717 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47a99669-00d3-4944-9e29-4c74d9660945 CAID:CA412371717 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90023905-7426-4c92-9b72-756c7c56184c CLINVAR:798785 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1460209a-46bf-4b61-9793-fc6bfa6b3ecb CLINVAR:798785 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e25bd68d-24f7-46a0-8b47-e16d358f5b32 CLINVAR:98958 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47b73c26-21b3-4544-8eb9-e210ad8a069f CLINVAR:98958 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd69e6a-75ea-48c7-8e95-6b66e8f3d9d7 CLINVAR:98943 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0f91304-5841-40e5-93d5-e8d00c2327c8 CLINVAR:98943 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a47174db-6ff4-4277-81c4-edd9ca4c405c CLINVAR:98936 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49a086c0-e67c-424a-87e7-5e95e6d16568 CLINVAR:98936 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c429cd-d1f8-4cb5-afb0-19f9aeb166ce CLINVAR:9887 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c4a17d5-b47a-4041-b6de-bb5fdb78cad6 CLINVAR:9887 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4128c752-5c56-43e4-8dca-2dc0787791f1 CLINVAR:98925 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3a06750-d97e-49cf-9be2-0d10fe9f40bd CLINVAR:98925 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9511b25-2e54-4256-a898-bddd721cafac CLINVAR:98921 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f11cc53-7cc3-4331-91ab-34fc0a3e624a CLINVAR:98921 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5c5fd0c-570b-4e69-91cf-61de2cc3c299 CLINVAR:1066419 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b3c268d-1000-4876-86d1-65121092671f CLINVAR:1066419 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d27ee44-301b-424a-8748-3bf12aca2037 CLINVAR:449509 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b06f4672-d1b1-4592-9be7-3378580b36dd CLINVAR:449509 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 251713c2-0a50-4070-abc9-0b497cef60e4 CLINVAR:9888 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 106032ca-754b-4459-a309-e1ecccac8f37 CLINVAR:9888 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64a33ee-89ea-4c76-a2f3-c68a87cf23a2 CAID:CA412372976 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f2efcba-3b37-466c-9eaa-bba91ab762ce CAID:CA412372976 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66273e6a-8670-4f3f-b622-2bea6445f2f5 CAID:CA412376053 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 454de42b-7869-470c-a8f7-968da3010a3b CAID:CA412376053 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc9b6b8-c7e4-498e-b0ec-760599c4cc21 CLINVAR:1419115 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd3ea23e-f2a8-4eaf-83d3-ff605aa28056 CLINVAR:1419115 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0201cdfe-4959-4c3f-9ef1-9ad7032512c4 CLINVAR:1687568 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab6f8d1f-e273-48ec-a635-bc6a7534be28 CLINVAR:1687568 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 434af80a-07d1-40ac-b24b-07fa9e3f4471 CAID:CA2580650463 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6aae33c-96de-4ef8-a745-3c986bca87ae CAID:CA2580650463 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fb2b65c-5554-4a33-8de9-6d158fd7b5ae CAID:CA2695231369 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aeb16870-9d5a-4542-84ee-c8279cc95638 CAID:CA2695231369 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7722a09-16a7-4061-88ec-f1ac53668187 CLINVAR:99022 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f36d63cc-3cdb-43ce-85fd-9788afc56052 CLINVAR:99022 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec1b8b47-3813-4a12-ae37-de85c5754f39 CLINVAR:99021 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69383b50-32cd-440e-bb91-e5c6218efc15 CLINVAR:99021 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8240d929-6e70-4d12-acb3-fa7b037c3494 CLINVAR:99020 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58b6de30-559e-4200-8c89-b08c5933b76e CLINVAR:99020 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c34fd534-09ef-4593-a505-e6506b7b8510 CLINVAR:1063524 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f500b532-f474-4fbb-b73e-610fcf507030 CLINVAR:1063524 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 078ba1a7-d8f5-4ec2-968a-b6900824e605 CLINVAR:1048161 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ca5a09b-6603-45cb-8921-0b72c15b876c CLINVAR:1048161 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f45ea2e-5b6a-4851-a1e6-c7815c0f846b CLINVAR:1421996 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9cebbef0-35c7-4b23-a8bb-62530d7afa00 CLINVAR:1421996 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c171c3a-9d08-42d6-a160-13643bd1ac65 CLINVAR:98946 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93773cfa-27d8-47a8-8e40-4dc3a5198fd5 CLINVAR:98946 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aba8f74-145f-4ad1-a329-59e4fe3b5985 CLINVAR:98944 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30c0bf1f-747d-4155-a973-b4b5e8c152e3 CLINVAR:98944 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fec40b7e-5d60-43f3-ae00-200d41201365 CAID:CA2695231613 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d9af40a-842d-49d2-9c4f-820659aa3698 CAID:CA2695231613 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b58032-f1a1-4dda-a3e7-71b6633f5e77 CLINVAR:488837 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff636f2d-dbb4-45d7-bf96-08c68eff001f CLINVAR:488837 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 945f2e5d-1d5f-4daf-8a4a-66295d419c61 CLINVAR:555986 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f4b6519-b2a9-41c4-b7ae-2918d561c938 CLINVAR:555986 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5718b804-e07e-4797-8957-2012fdc91968 CLINVAR:501793 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7be5aae-e34b-48ac-ba5f-8008a949eb69 CLINVAR:501793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11aa1ab3-8453-4db4-b4a9-e513063cabe4 CLINVAR:2160730 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00dc2644-9ffe-419c-bfb7-2a3949126125 CLINVAR:2160730 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 313778d0-ae92-40e9-9c50-32970189ee95 CLINVAR:571521 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2ca0dee-5d3b-425a-8fdc-600d43bb673c CLINVAR:571521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65dcb28e-438e-4f48-83ec-389ac5d08a0a CLINVAR:281056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 868b9d8b-a70b-4696-8d78-525e217929ce CLINVAR:281056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f9986b3-fe6b-428a-9f1e-5036fb56830d CAID:CA913187388 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9543b055-ff95-4d16-a131-4afb0b6fd690 CAID:CA913187388 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84224ed6-68a0-479a-ab33-75ec90546c5c CLINVAR:98732 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db4a76dd-93b5-44b8-bcae-15e483e677aa CLINVAR:98732 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84733bd7-0c10-4429-bbc4-84b55f7efe8d CLINVAR:236481 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d9d0e32-9898-4eb5-9299-5a1786f50bb4 CLINVAR:236481 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0909d567-8a4d-4dc9-8954-4947080c931a CLINVAR:92858 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6cadf23-c6e5-4fe5-9648-83fdd35ff1a4 CLINVAR:92858 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff5ce852-2a26-48db-817d-36c6ecbe26f9 CLINVAR:98796 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5da47adb-a1d8-4755-a6a8-6437ce4390e5 CLINVAR:98796 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36dd3175-56b5-45b5-bee2-be4edaabb780 CLINVAR:1317013 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a24cad94-9c13-41d8-84f8-9ee14d5e6e94 CLINVAR:1317013 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc471a0-524f-4931-bce1-5f6831c9dfff CLINVAR:143094 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29fda854-620e-4caa-9221-297617ca5172 CLINVAR:143094 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc23e995-961d-4492-8e68-d9f0e42c09d1 CLINVAR:1213923 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66db97bd-cde5-420a-8fb5-67501939b550 CLINVAR:1213923 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb5300c-3893-49ec-85d1-439c7b177cfe CLINVAR:236483 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 814b9984-2de2-4b39-9766-421d44eca876 CLINVAR:236483 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f2bf11-7f0c-4e2c-a46e-df8356ee1729 CLINVAR:9899 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d02312cc-1e9b-401a-a297-4ecc6ab55f71 CLINVAR:9899 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80316e10-22f5-420d-a678-ed7c3c9c9dd3 CLINVAR:98802 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 677bf3d7-3ff8-443f-b77e-de9f994c0c41 CLINVAR:98802 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43eab090-f040-47b6-a28c-1f8f3c6c2f7f CLINVAR:198414 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 569431a5-3f87-487e-9174-d403c07554ec CLINVAR:198414 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31463bed-866d-4ba4-8e67-6d3908d51e05 CLINVAR:449508 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00b63009-c3cc-4a57-a5ae-c82cdbdf650d CLINVAR:449508 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bede8ce-f235-47a4-9956-2c14d62d0d8f CLINVAR:1497214 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d3d3dc1-db10-41f2-87e6-f176ae9ef2f1 CLINVAR:1497214 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14572812-aef7-4a75-a604-1f6d9597b4e7 CLINVAR:812421 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6f080d0-831f-45ca-af5a-754bdd248a82 CLINVAR:812421 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 952c23a4-2703-4ac4-a9ad-13dd27eaec13 CLINVAR:636203 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9784af52-3dca-4d54-9454-640cc4ba83a6 CLINVAR:636203 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7941d0a4-7167-489d-9491-489944f4ad4a CLINVAR:9897 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d57115d-0772-4d0b-bc30-505626a17373 CLINVAR:9897 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa032a2-c927-461d-a547-9424e1ab5aa3 CLINVAR:813227 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4292140-db5a-41b8-8ab1-93e2352b8161 CLINVAR:813227 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999dc517-316c-4ad1-a99e-f1a93bf1bee3 CAID:CA412725852 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91399da2-2ab7-4471-bc4a-339618da182f CAID:CA412725852 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a1bfa8a-8297-4eeb-80ad-6b7ad14cc653 CLINVAR:931960 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b4627af-9f27-46ad-aee7-bd928b32c709 CLINVAR:931960 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca33935e-9978-4156-909d-fb5104833801 CLINVAR:1012373 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6b4f27f-eb52-44d4-ac6b-d73e7182fd49 CLINVAR:1012373 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4ef7358-7a01-4fcc-a57c-1805c16be2a0 CLINVAR:810564 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89f9d0c5-1639-4ced-ba1d-41738712711e CLINVAR:810564 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3323cea1-97a0-4f35-94e6-70bf13dcbe49 CLINVAR:280089 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00491fe2-b9c1-4b92-94df-a4f228a6ae82 CLINVAR:280089 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f66cc24-3ffc-4c54-ac1d-1853bb72028b CLINVAR:1356123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cbb80a4-75a4-4587-b244-ec3d9c778add CLINVAR:1356123 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0972dafd-e593-4820-ba03-8ebf2f6676cc CLINVAR:867211 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd552eca-e59e-4ca3-9171-130ef3ef3c90 CLINVAR:867211 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d66cde81-7f40-41e8-b83a-91a64f4dd5c6 CLINVAR:3028605 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d9ba18f-f1b0-4f10-99c2-99960b4f260e CLINVAR:3028605 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4171e1a7-cfbe-4c7a-9f9d-bb98160052bd CLINVAR:1048123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc7146d2-e5a8-42ab-af0f-5a44020116de CLINVAR:1048123 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65b639fe-bdbf-4f3c-b252-b2b098b871c6 CLINVAR:1172696 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80f09f71-cd30-4ef6-943d-8514737d4d0f CLINVAR:1172696 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b8a9e42-a8dd-4883-a752-26273ae7129d CLINVAR:91389 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df18f0a1-efe7-411d-bec2-0ce7668a646a CLINVAR:91389 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09be75ac-6df6-4235-9892-d50888c38cd5 CLINVAR:438142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d1a3c00-0466-40ce-ad3a-8be1180dc367 CLINVAR:438142 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 745670b3-e638-4d08-a0d6-3d4b80013e5f CLINVAR:866109 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81c3047e-2314-48bb-bbb3-860df6b4252f CLINVAR:866109 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ef3888f-10a2-4826-ab6c-b2654deb0e9b CLINVAR:9902 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f92e8478-b68a-4032-94bd-b7b4ab0ecc8b CLINVAR:9902 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec1e97c-da2f-4beb-99c4-5121e8e735fd CLINVAR:642531 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00fa3d88-f16e-4fe6-9b63-9cf68d2f9a96 CLINVAR:642531 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9970946e-3442-4bad-aa8f-e19363a65d97 CLINVAR:690133 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e204109b-0c88-48d2-b92e-af5b8932157d CLINVAR:690133 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33c8fd3c-37d4-4dcd-af56-d849b0d70538 CLINVAR:692855 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89fef1be-6040-41d7-b768-2548b0561620 CLINVAR:692855 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ea7824-e031-46ba-a0d4-cc1f92751397 CLINVAR:567566 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50bf7901-7012-48ef-a7be-ba6804772f2e CLINVAR:567566 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a26179f-17d4-4c73-869f-16f4bae3c8db CLINVAR:1458772 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03ed405b-91c8-4384-adb9-faa1b20b49c5 CLINVAR:1458772 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbd008f9-0ad1-4a54-955b-e21b825b1fe0 CLINVAR:193062 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe24ac34-dcfe-4112-9e63-77e428e34462 CLINVAR:193062 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 549cdcb7-8c9b-4959-a9a1-ef16fca823dc CLINVAR:801086 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36d773d4-c5f9-4218-8606-8027183edfa5 CLINVAR:801086 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12daa6b0-c320-43bf-8978-9a762d49060f CLINVAR:125519 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fcf003e-7f2e-4e1b-a59f-ab37fbabc22b CLINVAR:125519 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce49551f-6b39-4626-8e41-365c0f71f802 CLINVAR:409353 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea485075-e2ab-4b59-8c5b-c4ae5c04a8cd CLINVAR:409353 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f7e36db-514a-4662-880f-c936bf11beda CLINVAR:631061 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e106d71-9117-4a84-978b-9b013e8e186c CLINVAR:631061 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626f6726-5a0d-4d95-9d84-4bdc1f9f9419 CLINVAR:441298 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ee19e25-3b42-4fba-8da2-fbece6364761 CLINVAR:441298 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d350db2-f971-4702-8464-8774bf9f2bc1 CLINVAR:230862 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac62c86d-5c21-43de-8654-9e1fff1a3102 CLINVAR:230862 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7e2b18-530b-4ec1-9888-97eea44c63b3 CLINVAR:142617 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b9bcbd9-9475-412c-be29-cc85ad7ba21d CLINVAR:142617 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8edbb6-d270-479e-8841-fe39f75545e8 CLINVAR:568479 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03c3522a-9f16-428e-9201-dff4cb3e3f7e CLINVAR:568479 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9bd7499-b5a3-4ae8-98e6-968e997f414c CLINVAR:531302 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2a9bab1-2b3f-4bb1-9c32-db1d1cb76dd9 CLINVAR:531302 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1424e5c-e24c-415e-a8d6-77022017afd7 CLINVAR:125777 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bce72dcb-7af8-4cc2-be39-cda8b81eb219 CLINVAR:125777 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51574bc5-ef2e-402a-81de-aecc48034c20 CLINVAR:483130 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e8af008-3ee4-4fc2-964a-6f0f813946e7 CLINVAR:483130 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 947f357d-c7f1-4abf-a3cf-a296a9a3f1d8 CLINVAR:927378 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bb2427b-6834-43c7-a1ba-a5260481d512 CLINVAR:927378 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02079eff-0e4d-4f62-ac5c-448abbce1d20 CLINVAR:656566 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7420052a-b45e-4825-b020-af226003d38d CLINVAR:656566 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c39413ad-18ae-41ce-ab37-113cb75836ca CLINVAR:96950 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0de4b7f4-e9dc-4725-8f37-95bac761d8f7 CLINVAR:96950 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65aec5db-eaf4-48ca-8d7f-295336a0793e CLINVAR:55383 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6740ce9d-3a34-4537-b9b5-4fddb47c24e4 CLINVAR:55383 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e2ac632-288f-4c32-a60c-8c7078167624 CLINVAR:232955 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b12e4813-eccc-4cf3-b120-38f3bb9102eb CLINVAR:232955 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dbcbf04-83d5-4fc2-a0ac-4bfe01518fbe CLINVAR:575178 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 195a5333-ff88-4e65-8aff-fb602a6ba417 CLINVAR:575178 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e8a9c7-206c-46df-b0c8-17fe8385ec91 CLINVAR:438744 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf19a510-d3b3-47aa-b13e-60409cf15867 CLINVAR:438744 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61b6f040-f7d0-4e81-8822-f77aac9aa109 CLINVAR:551563 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d7505f6-21a8-42ff-8bf7-c17f9c0afd6b CLINVAR:551563 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4cfca52-9107-4f86-a2d6-cd5f02713dfe CLINVAR:3233261 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c2bb184-a8c5-44a2-934a-ac93abb3fc51 CLINVAR:3233261 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e76f7ed-6565-4626-8cee-cb5ccca44513 CLINVAR:3906899 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be41743f-7196-41ba-bd71-8cdda5b2ee0c CLINVAR:3906899 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be5cdff2-761b-4e62-b2ec-191c51bdc9cd CLINVAR:2498386 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 308e6b84-9e91-466f-9b10-59e70e7c2317 CLINVAR:2498386 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56649ab0-a514-4e84-a1b1-0e9b1920c7b5 CLINVAR:474890 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50b5c71f-a565-4b52-a5c9-e57cb1452ec4 CLINVAR:474890 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e884f285-f577-4aef-8a40-c937bf143470 CLINVAR:693726 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 157b65c9-9b42-4aa1-b696-cfd90e72d054 CLINVAR:693726 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 362f28f4-5064-4cef-8b32-a1cdf0a820e5 CLINVAR:3900732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a50f6e9-3cbf-43eb-b964-746a211f151e CLINVAR:3900732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f12b4c93-7447-410c-b8a5-a428d468d5a4 CLINVAR:693057 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 817d8557-5b98-45dd-b15e-84ac8322db4d CLINVAR:693057 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62cbfb00-a8e2-4146-8a8f-3b93a85ba37f CLINVAR:9584 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ce0a43a-cdda-4bc3-afae-d622d00360ee CLINVAR:9584 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dac1c484-36b3-41c2-9d59-6e42648dff0d CLINVAR:2716683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 347b16fd-7542-48fb-adaf-28d460df15c5 CLINVAR:2716683 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 828b64c1-9656-4f96-ab86-515dc30ea8b8 CLINVAR:3063964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a0265e9-3783-461c-82d4-4b5793a869ae CLINVAR:3063964 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2682da0d-a31e-4737-bb22-d5b511d5f239 CAID:CA409108099 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a146578d-038d-4c6e-bf1f-e39ad5387d85 CAID:CA409108099 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c9bdf9b-a640-40fc-b9c8-8d18d9553770 CAID:CA9870403 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3aa9dfc-51f2-4d5d-bd0f-0101e15750d9 CAID:CA9870403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66f55381-053b-4d06-870c-51b08c0f4056 CAID:CA409109838 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4b20038-41a0-4614-9e8d-64a1fee7af20 CAID:CA409109838 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2f361b3-c1b8-47c2-a3ec-908c19bd5d8d CAID:CA367400174 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23bc6c65-1d63-4e4b-aed7-48cd94250e65 CAID:CA367400174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5fd78e8-a6e5-4580-931c-8ad05f3c0616 CLINVAR:1705456 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be62bf1f-e218-4131-9fbf-9ac7be7179c6 CLINVAR:1705456 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24785a1d-03e5-4582-9764-a4f4f44a53bb CLINVAR:36268 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21b57ae4-fe3f-4565-9565-73eef3431a52 CLINVAR:36268 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e8237e7-c17e-4f64-b998-f1627a030397 CLINVAR:804853 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5d5f271-40ec-4e93-bcf7-87b87ef8d197 CLINVAR:804853 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9813f217-5644-452f-8426-ecd51963174d CAID:CA2837995533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4fe745c-3d4b-4a41-8152-980b8eff6358 CAID:CA2837995533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1908ca1e-e9f0-438b-90ec-ba2fe2436a0b CAID:CA2850445536 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 496fd962-8daf-4b0d-b2fc-f78eb8f063a0 CAID:CA2850445536 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2239c4c2-0866-47fd-94cb-48fc38db3ca8 CLINVAR:1691363 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85d0b16c-55aa-451d-9820-e1fed4926a5c CLINVAR:1691363 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40a6aef7-eaaf-433a-8c85-56caee64a594 CLINVAR:36168 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c919ace-490b-4aa1-aca2-59e909d764b5 CLINVAR:36168 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 719f0843-696f-420d-8c9d-24d0291f8a80 CLINVAR:36179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65dac985-1f89-43de-9144-f1d1ac5438a4 CLINVAR:36179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e353f641-d85f-436c-b804-60a0d980f84b CAID:CA367398715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa89a32b-9408-47a5-aff1-b8467ad537cf CAID:CA367398715 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 016648e6-fdf3-4809-9dfc-bc17498a7fe9 CAID:CA367398710 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2aebe124-0855-4841-af80-509bfe8f1305 CAID:CA367398710 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58bc4474-c9f7-4d5d-b0cb-ef91d5cd41eb CLINVAR:982610 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbe51b81-8e4c-4917-aeb6-34cb99777f37 CLINVAR:982610 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fcb0ec5-a6ab-4023-89cd-63a03990f8d7 CLINVAR:618728 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d912d9d2-a316-4210-b59e-0e906b8729ae CLINVAR:618728 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 621f44c7-4dba-4fc5-831c-5bc6e5e7eb8a CLINVAR:618217 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 264c03c0-480c-4cf2-81e4-c989a421ede5 CLINVAR:618217 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89794137-54c7-4f3f-b340-791228d8c182 CLINVAR:377340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3586a166-794b-4ac4-a68b-9c972756b708 CLINVAR:377340 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0cb9e37-ba67-4981-b285-dc1e6b211f49 CLINVAR:618720 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3c7c99d-7653-4400-b4fd-8045675e1850 CLINVAR:618720 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2c41a9a-1ae4-4b67-8fca-8d974e9e072a CLINVAR:465208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 097fc0c1-2291-4cf3-a8d7-3a9f9a88fbaa CLINVAR:465208 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63a2a071-ffb1-4cdc-8d95-4851642f262e CLINVAR:9582 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 673984a9-99a2-48e9-b8d6-4e57e5b3c749 CLINVAR:9582 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ba2103-a33a-40ec-bff4-4b41f444951f CLINVAR:252021 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d05da589-deee-4a27-9c40-425c9061c071 CLINVAR:252021 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d801d17c-f3af-4bf7-a524-56bf7d9ff42b CLINVAR:252052 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 758df73b-f47f-4cc9-a0bd-a5a1da1b9011 CLINVAR:252052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb9ef3ca-c6c6-4ee2-b168-cc7c1640348e CLINVAR:1171684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eaeaf57c-54ef-4a12-b20a-7903f1dc33ea CLINVAR:1171684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce444dd-dba7-49b3-821b-b0f358784048 CLINVAR:9652 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81c5c55c-c6d4-489b-a733-2a7438580eaa CLINVAR:9652 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 868d454b-d45c-4b14-a6bd-73be4c08fa13 CLINVAR:235260 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6db4c876-280c-416a-8b37-96f869af79c3 CLINVAR:235260 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f761694-980b-4a87-b929-bcd80a67b105 CLINVAR:254354 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eaf90415-925d-49e2-9af9-accd71593b5e CLINVAR:254354 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d1fea5-4303-4bb5-a511-5140ed2b204f CLINVAR:692346 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4ba466e-5c8a-4805-904c-173bd9c1c326 CLINVAR:692346 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b065965-1857-4149-8e82-99827b9e0c82 CLINVAR:933083 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bbaa629-53aa-4662-8882-3a017f3571eb CLINVAR:933083 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c6e512-3c67-4f2e-9d3c-71bcbb35dbce CLINVAR:933091 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35cb78cd-77ce-438f-86ab-cadf556d218b CLINVAR:933091 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a923e655-f9e4-4b22-bce0-0220c7ce02a0 CLINVAR:933010 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef13abf2-c774-4d76-b85e-2f12a5984c2a CLINVAR:933010 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d7b693-887b-4a30-b420-55cfd53de81e CLINVAR:9721 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 805c2230-c77d-420d-a79d-e24967b33ca7 CLINVAR:9721 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbe12409-92da-413d-81fe-883b1709cc95 CLINVAR:9699 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30bb3243-2725-4148-98a8-a5aa4c4e5c75 CLINVAR:9699 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab1f869-62c5-4d74-894d-8be86016ad6c CLINVAR:9704 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d0cc9ce-f653-4902-aa0d-00b110739ac7 CLINVAR:9704 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7faf12fa-dc16-4de2-9cec-dc9a527fc3b6 CLINVAR:1338262 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6904ca65-3f3d-4b11-80b1-bb344b80b1ea CLINVAR:1338262 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b141d4ca-7223-482b-889e-5b20eed42055 CLINVAR:224543 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6bd69eb6-c604-46a7-8b34-a4e3e650e3e5 CLINVAR:224543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 273d18b6-f767-40b7-adf7-f9f21e8c253c CLINVAR:536548 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b545924-7a78-41c9-af1e-ad35c553c00d CLINVAR:536548 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac1c7885-8786-4dcc-b787-fa5f4835d62a CLINVAR:497201 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45ae90f8-a0de-4b80-9a22-3d766c5a9378 CLINVAR:497201 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d0bf8bc-f4db-40f1-ae78-1211ee6b2519 CLINVAR:281505 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7dc823b-cdbc-4279-82de-335bdfb5b143 CLINVAR:281505 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95e6d950-c793-4169-998a-0ba8be7215ce CLINVAR:282494 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 452a5717-22fe-48ea-b002-85fd8152cf2a CLINVAR:282494 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0d00e5-86b8-4d60-9a17-17f44c5c8887 CLINVAR:282173 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b2d7cf2-4a9a-4b7f-8228-939ed320920e CLINVAR:282173 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f41f54b-032b-4ed9-bd6a-a3fdfa9f23c1 CLINVAR:194691 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9a45a9b-884f-479d-8bbb-b4e0573e0ffb CLINVAR:194691 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1523ae0b-f3d8-4cdf-9546-d6537eb5e1bf CLINVAR:283099 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff45cb74-8302-4f5c-ab17-43755abe084c CLINVAR:283099 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482be454-60f6-40e3-804d-47aad354e52e CLINVAR:370730 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8e2ccb5-d8ce-41eb-85b3-9eaccbbe8997 CLINVAR:370730 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b9bd170-138b-4163-880e-bfc3e7657097 CLINVAR:2441107 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e966327-3210-4afb-afa3-02eba5b7f583 CLINVAR:2441107 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0fc3561-47c0-4254-b010-800940184aec CLINVAR:498619 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6d8d8c1-346d-445b-a3c6-231b8009d690 CLINVAR:498619 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 306e4130-c9ac-483b-943c-72baf3f8d627 CLINVAR:2674975 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9a80874-d0bf-4037-bfa9-85b280c186f6 CLINVAR:2674975 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08e02ad5-1cc2-4dcf-bb81-76c844b190a8 CLINVAR:639814 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59cb4e2b-978f-4a9e-b6ba-b3bdd0af5f9c CLINVAR:639814 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfcf2bed-07aa-40dd-baf5-a2997e243715 CLINVAR:596644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91f7e105-9fc1-4e05-8219-8aea43513f25 CLINVAR:596644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea28fced-eedb-4543-8f40-7d76167c0e20 CLINVAR:1685801 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d426e2aa-38ac-4ad4-ad26-912d8897c457 CLINVAR:1685801 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac2493a8-45e3-4f36-8e96-124ca3ebc564 CLINVAR:2136509 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e713ddc7-6107-4638-b931-f3babf92c955 CLINVAR:2136509 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c786de99-be4b-4ae1-b21a-11aafde8ba49 CAID:CA367398723 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2895b490-3fb2-43ae-90e4-971aacf2f080 CAID:CA367398723 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5370452f-7995-4c9b-81e6-75f4aa7a2bcb CLINVAR:995100 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61f42725-2277-490f-b7aa-44c8ddd63e51 CLINVAR:995100 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d135d6a2-a9a9-4a6a-bf9d-a25bb3d5366b CLINVAR:1734018 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93b554ff-8f39-44e6-a724-817dafb98755 CLINVAR:1734018 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd94772-b166-4bab-a340-e37e63941129 CLINVAR:804836 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89ffbc62-4b21-46f0-aaae-f89447b3da58 CLINVAR:804836 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e392660-5812-4b1c-ae01-c7f498640909 CAID:CA355962322 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e104904e-33d3-4058-ab2c-7bf96b66b660 CAID:CA355962322 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b255258-b601-4ae7-9ef0-2dfdd0d120e2 CLINVAR:1468875 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dffca47b-e211-4ee9-b140-5b139a649850 CLINVAR:1468875 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c462632-361f-4fa9-b3ff-777819ac59ba CLINVAR:496834 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f3f229a-2c72-4d0b-a950-d4e55f5a234c CLINVAR:496834 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 732862b6-0adf-4db6-8347-9efd6d742bfd CLINVAR:280976 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e67d0a90-6ebe-46d1-96d1-1b6d9aa6696b CLINVAR:280976 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82e94296-dd6e-4a19-913b-bf0bf5a4ad4e CLINVAR:2152483 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f730a8b0-793d-4f04-95ff-3a42b8b7252a CLINVAR:2152483 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d214358-10ed-46ed-801d-4a144425fd96 CLINVAR:222996 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef70dd16-9901-408b-874e-da45e8a2872d CLINVAR:222996 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ffef08a-303b-41fe-95d1-e9226cd15846 CLINVAR:286242 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c38e9409-e518-4966-a234-cca7bb19c709 CLINVAR:286242 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8bdccbc-d4de-4b57-a16f-13a413cebce8 CLINVAR:950889 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7ea3190-73c5-460d-9d87-099cb40e129d CLINVAR:950889 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 991ac014-0e77-4c56-9fbd-78f3e8277405 CLINVAR:550799 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc420ade-b6b0-4339-86b1-20b9c740ab0e CLINVAR:550799 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4154d354-441c-4fd7-a923-b88873f27098 CLINVAR:265418 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0e32d81-de96-4f11-af02-72f5112003f1 CLINVAR:265418 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9cfd706-2cf7-4817-8895-8385e4bf2645 CLINVAR:652306 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e03086d-ca41-4e57-a3f6-66f24cd0c4f5 CLINVAR:652306 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e8ab9f3-5a88-47f9-a2b3-72f1393849c1 CLINVAR:553173 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44207aa1-36ee-48ed-892c-52ca21cd997d CLINVAR:618502 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c923f119-a8db-4f0d-a235-399a6c85c8b9 CLINVAR:618502 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce46cec0-fb0f-448d-b588-18b16249428d CLINVAR:474879 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e41e4229-c52a-4cc5-9e32-20a074626a49 CLINVAR:474879 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f96a2dea-0da0-49d7-bf41-bf4d30289e77 CLINVAR:639569 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c091aa0-60ca-4cc3-88c4-9674b60e7397 CLINVAR:639569 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed3b434-a2b1-45b6-bc5a-842f61c735a9 CLINVAR:383542 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bcb51bd-a46a-4507-b774-b67d6a9fb299 CLINVAR:383542 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7ed2ae-b137-4780-a797-03ead335c9aa CLINVAR:1942331 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f33a8fc3-443c-4928-bd09-a8bf5a953a85 CLINVAR:1047359 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd44818b-49cb-4ceb-9329-273bd355360d CLINVAR:552081 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b697d803-f874-459e-ad89-00b11d9b32bc CLINVAR:970368 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00941a89-6981-44ae-ac69-f7d4a4fc677e CLINVAR:558632 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9bc1a75-90b9-4a09-92bf-ce616316b0d5 CLINVAR:558632 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 252cdf0e-08f0-495b-aa12-19447edbf977 CLINVAR:556949 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64037ba9-f4f5-4aed-b6ab-dcb2b913a9a6 CLINVAR:226361 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cef12ac3-a7d4-4891-b78a-527510807cf8 CLINVAR:226361 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60719049-3c5b-4ff3-a2b2-9bb9a4a14956 CLINVAR:3073518 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dac53a71-44b2-4171-970e-e4c672b300ef CLINVAR:3073518 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f297e40e-bab5-45a2-851a-802369ed4b12 CLINVAR:251855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be7f0a22-3435-4220-8d28-2c092ad6eb57 CLINVAR:251855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ea96d6-84fa-4e71-8362-a3ad273ea840 CLINVAR:328055 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f4e4e71-6d41-413b-b6fd-4b332d26d4ab CLINVAR:328055 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 212aafa6-b844-4ee6-a2f1-230ef364c8ac CLINVAR:375815 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00f3651d-c8ed-4b5c-9f9a-ea08e4c121d3 CLINVAR:375815 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85aa1629-c71c-40f2-965e-483d646445c7 CLINVAR:430690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e25ea4b-68a1-4bf1-82fd-8a99f0276eac CLINVAR:430690 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab16a56-d97f-474c-a176-f503447d5201 CLINVAR:3758005 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71246307-bf46-4a84-bafc-3b3d3657988f CLINVAR:3758005 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2165fd33-8c36-45e3-bb30-ca392da65558 CLINVAR:98851 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13353147-deb0-4b86-8779-5a48711080ab CLINVAR:98851 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec34d40d-f424-48e6-8169-a8c38f7c4837 CLINVAR:2202769 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3654b4b6-1d0a-40e7-ad21-cafeedf3f5cf CLINVAR:2202769 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f750a3d-f321-4b3c-9944-6c90ef16918a CLINVAR:973961 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69231d39-afd2-4e70-bdf2-2ae821d15e4e CLINVAR:973961 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c4db90a-a2ce-480c-b3fb-987e48cfa5f4 CAID:CA340740587 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed6fe7de-3d82-4654-a5af-4166c3f2d52d CAID:CA340740587 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86fadc8-0457-4197-9c1e-859483c27f4d CAID:CA2586966740 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06c60f88-fc4d-43b5-9fa5-9027a3fdd3fc CAID:CA2586966740 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa15e7e-d5e0-4ec6-9386-c29da71ccbfb CLINVAR:801494 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48734f63-9540-4295-86dc-25580fdc2e50 CLINVAR:801494 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f665d7-38e8-4b4c-ad1d-2d17cb672959 CLINVAR:98858 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56755a1d-ece6-48b6-a3e2-7331d787f5bf CLINVAR:98858 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b388fe9a-017b-4d1f-9886-3d0b278b6aec CLINVAR:98864 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abe64403-2dfb-4115-aaef-faa27e57e063 CLINVAR:98864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39ca4ef4-9916-4182-a079-8136921df1c0 CLINVAR:978980 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1359d386-754f-404c-a519-777d3b380099 CLINVAR:978980 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 489262c6-fd25-43d0-9b5e-1f9c1a8a5efd CLINVAR:9661 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f70649f3-b39b-4809-87b1-d0214a4c0087 CLINVAR:9661 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a691da64-ed8b-4530-8081-c6e7b61bd171 CLINVAR:488349 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2ba5764-e3e2-496f-8761-38400bce7718 CLINVAR:488349 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b07222a-7fdf-4270-b597-b9c837742c50 CLINVAR:9655 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c28eb384-8f07-4f9b-a9bf-42b85e996160 CLINVAR:9655 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c6b7e03-3f41-4c90-8b2d-06bf8405c7ea CLINVAR:805947 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 230eccbe-4fe7-4e4f-a920-77b1443d7ff9 CLINVAR:805947 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d690db-d96c-44af-9cc6-bcd7232b7f23 CLINVAR:252192 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e67c9106-d9ae-4ea7-a36a-7e081af85ec3 CLINVAR:252192 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6357e54-1a75-4d63-b2f4-afcc2d32f0d3 CAID:CA404093661 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1da93557-36b6-4d3c-a3d5-3abd5d57dfb6 CAID:CA404093661 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 307f54ef-2991-476d-ad3c-d881bf2b255f CLINVAR:1785078 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 254b1d68-c573-461e-a0ca-731f2ab4e390 CLINVAR:1785078 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a236e361-78a6-426d-9541-df052c39b1d6 CLINVAR:328052 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f054c49-39e5-4364-9557-b7f7c6a48502 CLINVAR:328052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2380672-cd4c-4887-8210-2fcbe70b37ab CAID:CA399791662 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9aedd3a8-a589-43d6-a859-8c99e8348f03 CAID:CA399791662 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91820c5-2a40-4269-970b-70e156ff4e39 CAID:CA400022022 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd762892-438b-4057-84c4-3685229cec91 CAID:CA400022022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e96d3d73-f7ce-41fd-96bd-441e44ffc498 CAID:CA658760377 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75fe0747-79fb-4985-b7d1-0808ad14a810 CAID:CA658760377 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03784ccc-446a-47df-a47f-f1cc33bc7c3a CLINVAR:2734558 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 510eeec8-f38a-43bd-9553-20f09a7e8ca6 CLINVAR:2734558 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a953356-b7b8-46c8-85e3-8f634ce025bd CAID:CA2695224143 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8d84925-67e3-4a86-bbf0-ed8c9037c37e CAID:CA2695224143 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29d9bd51-ba98-49a7-89eb-9072446d46d5 CAID:CA410677562 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8bbf9a9-8a5f-4f49-ad8e-b0c599d02e80 CAID:CA410677562 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff1ef16f-1d04-4462-8295-107af8b259b5 CAID:CA410677579 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f377d241-9854-473b-a2b2-79bb6a54024d CAID:CA410677579 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 039d9dc0-2462-4630-b9aa-13aa1e1a822f CLINVAR:246082 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abcbf2eb-0325-4eb0-8104-990e4e2d3307 CLINVAR:246082 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ada8664e-f7a8-4fe7-96bd-82b7398c8a3f CLINVAR:158515 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e362dfa7-2d1b-4ccc-844e-c06728bdf7ac CLINVAR:158515 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8450edb-bff3-47f0-ad44-9a1d93232604 CLINVAR:158514 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c98647b4-34a4-4227-a0bf-cb9dc34af1e2 CLINVAR:158514 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 687f9359-25d6-4d16-a086-e76b58c88f60 CLINVAR:92677 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89e76728-3bb2-4929-a414-b8c2e9584b59 CLINVAR:92677 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cfe52ff-049d-4a9e-bdb5-81b2e6a04611 CLINVAR:451052 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 455ea475-b2d3-49ae-8409-fbb10cf15efa CLINVAR:451052 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 178e39fc-f11f-4796-b1c8-fa3a69f19c52 CLINVAR:235402 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72ba343f-5f35-4313-8e00-663b662365b4 CLINVAR:235402 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66097bfe-904e-43b8-a9a7-053a4cc1d46e CLINVAR:642798 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4bd3f19c-0e5c-4ca9-a6a9-52f7e36235e3 CLINVAR:642798 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f3a1a4-d3ec-44d0-8fe4-927e74ddc4fc CLINVAR:100279 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f76d807e-0872-4572-8390-c0b48c7c8769 CLINVAR:100279 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a620b8-b2c8-4cec-9495-c095c60a0074 CLINVAR:132994 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71f28b74-1cdd-447f-ad45-a14cc90fa4bd CLINVAR:132994 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3976207-4831-42d4-92cb-5901d1d19edd CAID:CA2580612111 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92512c4b-fb9a-4d44-891a-f6c63faed8b2 CAID:CA2580612111 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6afe1417-1ba0-4608-be5a-ea353dbd9456 CAID:CA386971688 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e7370b6-996a-4cea-9070-d90435f05fa5 CAID:CA386971688 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e8a9385-3319-4087-a84a-77dff3a2dcba CAID:CA386966053 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4792ca1-0769-4e45-90e0-a621833540b1 CAID:CA386966053 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb132341-f857-40b2-858f-3de4c4e08a30 CLINVAR:585930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b098ea25-7850-430e-ac0e-d2917512dc68 CLINVAR:585930 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33005be-0c09-48e1-be7c-0f9b90350111 CLINVAR:3029101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a3d78ce-93d0-44ec-b938-dc4d3b377bc1 CLINVAR:3029101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7179d193-30d5-4a68-b2f3-6571b1e47f33 CLINVAR:804851 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20e2061a-27a5-45da-a20f-2a4e8093d43d CLINVAR:804851 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1676bd91-10a4-4035-9b28-ff2ad80be01c CAID:CA2695203127 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93c69fa3-d85e-487e-8b32-74c177db23e8 CAID:CA2695203127 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 926d0cdf-db42-4990-9d90-7347b89b8f4f CAID:CA367401109 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 992462bd-0dd5-4c5f-b252-0f40dcb0b3dc CAID:CA367401109 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7be75e00-bef9-41a8-8462-e01e599b1ccf CLINVAR:1803547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a985b37-2705-4dc2-9fcc-047864d83a8f CLINVAR:1803547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b90e3256-14ec-47bc-92ff-a87a4f516af0 CLINVAR:36258 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e14646ca-f96d-425d-9d06-60895da169ef CLINVAR:36258 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd54c93-6283-4f29-ab97-8b97b083f480 CLINVAR:161288 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43e2c705-fa70-43e6-ba41-42e4da927b9c CLINVAR:161288 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 793983ee-d2d8-4956-b102-fb36cb821fd4 CLINVAR:252061 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6b92000-7db0-4766-869c-cfdaec0210e2 CLINVAR:252061 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288fe224-250d-430f-8de5-bd15184f420d CLINVAR:440691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9211cc16-9c8c-47a3-9be0-b38330dec041 CLINVAR:440691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 766a7de0-e4f5-4790-8cc7-2ceaa57a36ef CLINVAR:630377 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3cfb6a7-8d3e-4c30-941a-03c9d075c6b4 CLINVAR:630377 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ea1d9d-ac87-4b7e-92bb-59e5c47a815b CLINVAR:252015 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6238fa6-4842-419f-8363-6bf533b945da CLINVAR:252015 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e17f417-4a52-488c-b583-02f3e1330cdf CLINVAR:252172 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a00f1f82-9740-4431-902f-c4f6f9277485 CLINVAR:252172 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9685843c-a802-4d45-8e7e-e4db8f2aecaf CLINVAR:922061 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da0da3fc-c75b-4d56-bba8-eef91fc53679 CLINVAR:922061 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c1780bf-f444-43db-81e9-a206bb91ad45 CLINVAR:406165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8127d31d-8f1f-4248-9d93-55c0a49db38f CLINVAR:406165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b89a5a8-4f8d-4aad-8909-7016281e2d9a CLINVAR:237872 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17a74c88-1e10-403d-b616-f1fb9cf234eb CLINVAR:237872 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 375039eb-e191-4c44-9b79-557c2ecf5ba7 CLINVAR:183085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b7ea5d7-1fad-479d-a165-2694757f6db9 CLINVAR:183085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3810b5e6-bf96-4a1d-8dfa-367cedec25f1 CLINVAR:251857 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66c6526d-3249-43e5-960f-c29e3b3dc676 CLINVAR:251857 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9491053c-f7f9-43be-914b-71120043a8df CLINVAR:251858 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d463090e-5d17-4197-8fc2-91be7a1f136e CLINVAR:251858 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea263f0-9530-47d4-a066-79357f3ade72 CLINVAR:251856 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcfe1ac9-2a83-4445-b62b-5eac472ada00 CLINVAR:251856 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6d91e7-a3da-48f1-ba78-46285735e375 CLINVAR:430776 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e167299-f7d2-4405-949d-47aa20dcc6ef CLINVAR:430776 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96e0112c-d27e-402c-a58b-7263d66e4073 CLINVAR:251749 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 592b5363-ccf8-41e9-805e-1a41baf2440d CLINVAR:251749 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 816ceb06-a606-4abc-9205-a2f52ac09f18 CLINVAR:251748 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4fd62a87-0ec4-4de2-a3ce-547a95ce1f09 CLINVAR:251748 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29c69fb5-c28c-4a07-86ef-8e43ce2b4db5 CLINVAR:251750 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cfdb499-856e-472c-aa74-1717f1a57118 CLINVAR:251750 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1231bbdf-e5e2-4d1d-a167-2cb764cc5db6 CLINVAR:3620741 biolink:associated_with_increased_likelihood_of MONDO:0011058 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9baaa2b-6553-4410-aef1-db9f167e84a3 CLINVAR:3620741 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9be9f3c-16b5-457a-bf8c-16cdc9bd7644 CLINVAR:143791 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc7f4ca7-eee6-4c5e-83ae-d49faa6bcdb3 CLINVAR:143791 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1d50f6-7e6d-45e5-9519-d96767a87fe2 CLINVAR:156592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b81dc39-9dbd-4799-9576-13b860b45b89 CLINVAR:156592 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a336a07-d47b-42e5-89c3-760751541471 CLINVAR:208653 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f985ac1-46c0-4363-86ac-48ca4c593f35 CLINVAR:208653 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b87a6f2-89e8-462f-a220-e92591b9c465 CLINVAR:1648546 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ca889e2-d8b5-49ac-924b-1a5c59b163d5 CLINVAR:1648546 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b42f2d1-82a2-4a84-916c-232abd023d56 CLINVAR:143796 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 729e3b68-6e72-4b68-ae70-7962eb2e54fe CLINVAR:143796 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6580d689-898f-420f-9089-42b48aec1941 CLINVAR:143493 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afa3304c-8e0e-4aa8-9884-f08d313d8d2c CLINVAR:143493 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf2a4002-431d-48e0-a590-002e8f527067 CLINVAR:2492678 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5b55914-4b6b-4526-b301-c67b25ca1085 CLINVAR:2492678 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f48fc4ff-af34-44cb-9e44-1cbb85fcb7e1 CLINVAR:1144732 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0dd935f3-2bde-4058-832d-c76cbc4fc60d CLINVAR:1144732 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93d6717d-de75-4393-8f48-ce0894da5c36 CLINVAR:1911932 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad10ecad-f43c-484b-9c2e-2cd2aba54c3a CLINVAR:1911932 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 421da594-ac91-49b7-a0b9-b062f0b0defb CLINVAR:212376 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93d54e87-3725-4b4d-9310-02c3e742dd90 CLINVAR:212376 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b56e43-ff1c-4d58-a236-ef69a013ac2e CLINVAR:1164050 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc165106-6695-47f8-a3e8-f0e65744e1bf CLINVAR:1164050 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62a30034-2b80-4740-a89d-a4067310fa60 CLINVAR:973968 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 942187cf-20d4-4000-86d9-206e45f0c0d2 CLINVAR:973968 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 976fabb6-e3c8-4c20-8751-7d8098c473f5 CLINVAR:98870 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b8ccd0e-de2f-4583-a3ed-289d25abbd2b CLINVAR:98870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 985269b2-521a-4fa5-93cd-da8034313d8b CLINVAR:98840 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88ec5177-c983-472f-a1b2-7432e699b9f6 CLINVAR:98840 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ccecd07-7991-4339-bbbd-a1a503c2d182 CLINVAR:973967 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1dd1ae3-fc69-48ea-a495-7d144ff535b5 CLINVAR:973967 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25044f41-81f4-45cd-a0ce-68b28fc72055 CLINVAR:973956 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d69e9c14-b953-4fa1-a037-258b24a697a5 CLINVAR:973956 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbcac915-487a-48ac-baad-653481929d0f CLINVAR:973965 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df2ad806-0f15-4caf-9756-35c35caf1105 CLINVAR:973965 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b57092-5b55-4dbd-9103-a4e8b80a11f7 CLINVAR:973966 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e91089da-8874-4c7f-b47c-f12b415abb2f CLINVAR:973966 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f4676bd-42bb-4fb6-88d2-8d67e9c860e1 CLINVAR:98904 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 298b0d2b-c785-40bb-b3f3-71a5b7130d3f CLINVAR:98904 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29412d8c-dae5-47b1-964c-4c2e1b616d87 CLINVAR:53031 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbfcedb7-3730-4b83-a18f-3c3515952574 CLINVAR:53031 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75defb04-647e-42c7-b805-ad0a23a79fc6 CLINVAR:3119 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8adda1c8-1872-47f6-aa3d-f32c75e0f715 CLINVAR:3119 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efcde70c-503c-48d2-b5ee-2f864124292f CLINVAR:52955 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d0a873d-2894-4990-9fc6-f8b49999909c CLINVAR:52955 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6cdcbbf-946d-48d4-b8f5-67501f521879 CLINVAR:3114 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87eab7a5-cac2-4625-93c7-61e42bdc241e CLINVAR:3114 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d84e77-bb4a-4367-9873-248e48e17ed3 CLINVAR:191476 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a131dd1f-fa20-4307-b7cd-a2a6787b1928 CLINVAR:191476 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe770eb7-fff3-4c34-9f11-dd09063d93ac CLINVAR:200877 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8573015f-57c7-4c39-9a74-9f6d4aba4908 CLINVAR:200877 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a7d3180-21b2-4cc1-a623-8a16e05fce26 CLINVAR:67059 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 740f0f96-15fc-4ac3-9be3-ae065936e030 CLINVAR:67059 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc6f68aa-5846-4e93-a888-e0e1b8ae75c0 CLINVAR:3128 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e75008f-e1e9-4420-8c9c-125bc02645bd CLINVAR:3128 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a180ce23-c45b-4d0f-8bde-49829ca3e976 CLINVAR:53047 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49569af0-5172-4f12-aa99-5903fd27fa22 CLINVAR:53047 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ae28d6e-9b33-4696-8dce-59f89e06b54c CLINVAR:67130 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2b03a5b-09ab-4419-894a-143ea51ecb65 CLINVAR:67130 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1e1e66a-1275-4638-ac44-c401a673f699 CLINVAR:219923 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed0f0243-9929-4483-bdd6-ec0eac0d7bf1 CLINVAR:219923 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd832b3-b61f-4914-94cb-deb55213e550 CLINVAR:3140 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20db0bc3-2ab3-4078-b4df-cc845a7a378f CLINVAR:3140 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec50201-86a5-4148-b70c-da4c8a91ff19 CLINVAR:53034 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02d16069-37ef-4ffc-a050-ed5df8257aa3 CLINVAR:53034 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b011e307-09ff-4db4-b790-6a57730a7940 CLINVAR:53118 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17a39b92-43e9-4760-b3a3-ea52debc2dec CLINVAR:53118 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86f8052a-e7af-4816-be86-d0abe79fff01 CLINVAR:53083 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7b6ab2c-9570-479c-a0fd-65baccda50f5 CLINVAR:53083 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db0b768a-ef8b-47c8-96a6-368c9b804fe8 CLINVAR:2124553 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6988aa2-775f-4d40-8b03-bf57ccfba0d1 CLINVAR:2124553 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2934e3a2-f369-45fb-960e-e4bb15036d3d CLINVAR:67027 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0d1c7fd-f09f-4201-8060-97eb342aedb2 CLINVAR:67027 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8f99190-fd8f-4678-9ee4-520eabdb8c8b CLINVAR:871729 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39a4dd7f-b80e-415c-b108-21824e6b7626 CLINVAR:871729 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e441ec-6a8f-4c02-9953-7dfa23250f40 CLINVAR:1950175 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b4dc3d0-7ace-4010-a366-2160bb706090 CLINVAR:1950175 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 073307e5-8f4e-46eb-9dd1-b76b65c2aec0 CLINVAR:3118 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56c4439a-6082-40b3-bef5-a6cccba2d27d CLINVAR:3118 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98e4297b-77d0-42d2-a5fc-c4ecdece113a CLINVAR:3135 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69adbbe7-ca7e-4a68-b80d-378a154034ed CLINVAR:3135 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb7ac66-9e19-4749-8261-7c0be08e0892 CLINVAR:200874 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14d3f21f-d708-4d3a-bdce-346eb694210a CLINVAR:200874 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e7fff2-d776-4c13-bdb3-d64d4f7b4f39 CLINVAR:3131 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07550ad4-5523-4178-90dd-f1e77e406d19 CLINVAR:3131 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df74065c-143a-4a14-8ed0-d8a2dc1348ac CLINVAR:2683630 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91dac489-eeb0-49b5-9399-6ead62e1e09f CLINVAR:2683630 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a405eed-92d4-4103-b724-304b55c14f48 CLINVAR:4026 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d92b27e4-4a7a-47f5-ac78-80d63b2a9bcd CLINVAR:4026 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c65c2ece-1980-49d5-8c9b-a3c6492ece13 CLINVAR:1322950 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3af3e9d-1a2c-4190-83fd-1e07ba9686c4 CLINVAR:1322950 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d199df10-2fc1-4391-a8c2-d6f5c5de1597 CLINVAR:1711447 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b53cbf6-cb0f-45ac-8df8-a0fe7333ae60 CLINVAR:1711447 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae5ed57-2ba8-4831-80a0-8c942241c766 CLINVAR:3769497 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47c085cc-985f-41d1-9f5f-f4712aa8b159 CLINVAR:3769497 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85da44db-2f50-404c-a448-d8ca7da0f267 CLINVAR:3241650 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3bcab7c-3daf-490e-9666-61a37ca6b298 CLINVAR:3241650 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4db2023-683e-4ff4-a048-81bde3b4afd4 CLINVAR:456406 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2051825d-5e28-407a-b4a3-2972f5c8b8fe CLINVAR:456406 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbb3cf17-367d-4155-aa08-cab33a6a651f CLINVAR:863657 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f115116a-65a5-48a5-9224-078cf007c899 CLINVAR:863657 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a000500-793e-4ff7-9537-2111cc54ed2a CLINVAR:690463 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1892487a-564e-4b25-a4b5-64729ce25a9c CLINVAR:690463 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc16df04-489a-443c-9203-2d0cbe4a68d0 CLINVAR:1713278 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb75d163-bb4f-478c-9702-518d8ef94cad CLINVAR:1713278 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen babd0d76-e5ab-4e59-909e-94c46bd7d296 CLINVAR:2765748 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2efba73-1a5d-426f-9993-3755269ca609 CLINVAR:2765748 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6856f6b-2b65-4ea1-87bd-1b1d4a230953 CLINVAR:2020494 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f65b963-4f85-46bd-a3a5-58159e903a81 CLINVAR:2020494 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1601892-ab00-471f-9137-8958cc0e6bec CLINVAR:265521 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9b36e2e-8ab0-401c-8c3b-0c31c4f5ab38 CLINVAR:265521 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 751dc99a-457c-4101-811c-b35ff2262032 CLINVAR:217160 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01bd53cb-ecc4-4c2b-b3d0-b4506f4ced28 CLINVAR:217160 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff4fa71-08f0-48ed-b349-cf2b768db7e1 CLINVAR:500678 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a2c8499-5f18-477c-a496-3722158401b9 CLINVAR:500678 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e481602a-44c2-4d51-9d2c-407765997688 CLINVAR:291078 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92c425fa-930a-4b77-887d-53abe5cf510b CLINVAR:291078 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d2c4bb3-73d1-416c-b342-0c54e180ceb8 CAID:CA3055620674 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bfa4a47-f568-4d17-aab6-f137572a8156 CAID:CA3055620674 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb1c6b67-e327-4644-8dce-027662f8526d CLINVAR:94358 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d79e30a7-20d2-4d8c-9a2d-35833305fe80 CLINVAR:94358 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cf8fe02-328f-4541-9804-74929cf5c2e4 CLINVAR:94331 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a91f4998-fcfd-4784-bede-004fa3b858f6 CLINVAR:94331 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84805cc9-6c40-4bf8-99a3-5b62f7430c21 CLINVAR:94366 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9f0a125-066d-4a53-afdf-95f4f2796caf CLINVAR:94366 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85cfcd13-02b0-4c69-8ed3-3ee00797a5df CAID:CA347219920 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c82d2da-db0c-4dec-a3c0-85b5a0dfd917 CAID:CA347219920 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111eec63-6bc3-4465-95b3-9825bf4d1a49 CLINVAR:1300184 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7145f893-9f01-4a44-9280-1f5c3031cb57 CLINVAR:1300184 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713e6fe1-b607-4cae-99a5-1f67c600279d CLINVAR:288833 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87ab1dcc-362b-42ca-be7e-6d9b59cbe32d CLINVAR:288833 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf8584d2-27b9-4779-86c7-c09004d6d01e CLINVAR:3776168 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb4b7585-e268-48b0-8fdb-a19b29769c7d CLINVAR:3776168 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc1e93c3-05da-4bc9-99e2-ff9418d7b808 CLINVAR:553852 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f3b2b0d-9235-45e0-8598-bec2fa9b2a07 CLINVAR:553852 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85c4d2f3-20a3-43a3-bbbd-f182568e2d4c CLINVAR:984123 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1990ce22-e425-4ad9-a064-4878c120d23c CLINVAR:984123 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a3b1376-969e-46df-aa85-3d1913224237 CLINVAR:498211 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46e0b09c-fc35-42f1-9f0d-434af115440b CLINVAR:498211 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f76eb767-2deb-4c49-94e4-29e63cf07b67 CLINVAR:496981 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2abc3207-9630-45eb-9047-fd5ac0baf5a7 CLINVAR:496981 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d538b7a6-fc16-4144-ad57-45b4515c3532 CLINVAR:285340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9266e94-565a-4086-b17f-b60f458eee41 CLINVAR:285340 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78dfc32-ec1a-402e-b644-7dadb1fc4435 CLINVAR:9554 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca36a5b4-2c91-40f9-803b-dfc86133fdee CLINVAR:9554 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f156121e-ef1f-4d8b-abf4-1f54e2e69615 CLINVAR:9607 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b080a2b8-816d-48dd-84ec-71c8f9113548 CLINVAR:9607 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad4d8cb3-4ea3-4f6f-bb5b-7d00d00ed933 CLINVAR:127403 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09ea22e1-4693-408d-a30c-5bb300d3d0b0 CLINVAR:127403 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f57dfb-8303-46bb-8e51-608e719138be CLINVAR:524412 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc1228e4-ef71-4964-a73f-d53d33328fd2 CLINVAR:524412 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70c3a7d5-103c-42c6-b0a5-8613ffdcd893 CLINVAR:140897 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb786ef2-8e44-4c7e-877c-555d39fe63c2 CLINVAR:140897 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cff8ce1-1d18-4e1d-9d76-84c33594dfc1 CLINVAR:127340 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 377ddb5c-b1ea-4d95-b91b-b7fbbf129242 CLINVAR:127340 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e88d2d-e875-4bc4-a632-13e76b3fff91 CLINVAR:3022 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 363db386-95e6-4753-b98b-180550ab2913 CLINVAR:3022 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 538567e6-ddad-4c3f-a208-f75d8c5502fb CLINVAR:481101 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a80f7854-1b5f-49bc-bc48-80a4d7568b92 CLINVAR:481101 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30a40617-58c1-45ae-ae63-edca328d8136 CAID:CA382516273 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8807ec3-9b85-42cb-9f59-a12e8b68a5fe CAID:CA382516273 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e36df26d-a1fc-4613-9498-fac7d4bb3084 CLINVAR:232110 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a971c9c4-36ec-4fdf-8453-6ad578bcbcc8 CLINVAR:232110 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8259fe1d-39e0-4611-8892-98c636e4efa3 CAID:CA2695215276 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c705a2a-fc3f-42d2-8309-68cb749fc53c CAID:CA2695215276 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9dc846-15a1-4b2c-a7e9-e148924b2b71 CLINVAR:141325 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f3670e9-020e-40e3-9dcb-bebe1620fff6 CLINVAR:141325 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbed1c5e-14e6-41da-b5cb-63cd9ef1a923 CAID:CA382539488 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06c70c52-f14f-4a94-8f51-b662e566c765 CAID:CA382539488 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06535711-5d2f-4868-bf85-9413540b8082 CLINVAR:1023669 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca4de720-5440-4cc0-890e-7f73e08df489 CLINVAR:1023669 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f75c9a9d-e2d3-473a-9fa5-5e8392a28d19 CLINVAR:1018946 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e6d061b-dcf9-4368-b184-4d17a6f422f4 CLINVAR:1018946 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07122294-8b0f-4bfa-9616-8cd47b99eba9 CLINVAR:241562 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2431cfb7-abe6-4f36-a490-c38845c36147 CLINVAR:241562 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d6117e2-1d04-40e2-9b78-156aefe2e279 CLINVAR:3791511 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25f366f0-c20a-4b97-8a1a-73f5ff31b493 CLINVAR:3791511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa8a941-59ed-4ac9-9427-640b21f898a3 CLINVAR:3775902 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 606713b8-0430-4011-8c20-ab8c0138f03a CLINVAR:3775902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5f2dedc-2fbe-4e9a-b6c9-77bfc5d0b1d5 CLINVAR:3791500 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48974db9-c419-4998-b87c-e7f6912e26cc CLINVAR:3791500 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e27a5cb-6d9d-4d29-bea2-68aeb89db56b CLINVAR:3791474 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74a4c4cd-9004-46d1-b369-b251a79e975f CLINVAR:3791474 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18d9924-1ca0-4792-9106-0e82b6e75460 CLINVAR:3791460 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 359a4921-282d-4ce1-9626-21df7aa52f41 CLINVAR:3791460 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f79f62f-31eb-49d0-ba55-1915a6275e03 CLINVAR:3791461 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 424089a4-6733-4a61-89f0-f29827b48ee5 CLINVAR:3791461 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58b26f70-8bfc-4e47-839b-c6b7f4c949a7 CLINVAR:3791517 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9c0b628-407e-4acb-82a2-0de866f9d49f CLINVAR:3791517 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e233f71f-016d-4bdd-b3fe-198b88eb29d8 CLINVAR:3791488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15d5cbf7-6ce8-45c8-832f-8403c47c857e CLINVAR:3791488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfdbca6d-b314-4e65-a788-6855e5136be5 CLINVAR:3791480 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 260acbd5-2518-4e04-851d-e5339cd7ec12 CLINVAR:3791480 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c398087a-bc98-4a9b-a50b-3d96538b41d6 CLINVAR:3791469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e721c176-4438-4e84-8255-4dcf8ecaa95e CLINVAR:3791469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a95ad444-48c0-4167-8bcd-9fe4a1c552e4 CLINVAR:3791478 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 643ca997-7bc4-4f8e-a315-f64c22a58c30 CLINVAR:3791478 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c966e977-3dd4-47cd-bc78-ae1a1b1538bc CLINVAR:3791508 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f00cf05-2d2b-4769-a11f-2a3de8dd65a9 CLINVAR:3791508 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d699464-5526-4d55-b452-8ec7cbc08e6e CLINVAR:3791502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6211d22-6394-4fc9-a246-4856fc5718ef CLINVAR:3791502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb84e3b9-5706-4b2e-8fca-a80b88227abd CLINVAR:3791498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 067febb4-e9a9-4637-aa52-4a8f3ae537db CLINVAR:3791498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89bc6a37-98be-4f10-a8c9-abb6245fc2ef CLINVAR:3791485 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f0da503-7229-444b-8af3-905efed7874b CLINVAR:3791485 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 156e40cd-08d2-4050-bd2b-15d2954722f5 CLINVAR:3791465 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbf75510-ed11-416d-bad4-070d8c601f0d CLINVAR:3791465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 283b1ad5-c560-4e0e-a21e-6f6e6c48a5fc CLINVAR:3791467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d33c11e-ed1e-4452-995c-a5bd8ac24c9e CLINVAR:3791467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d59e0342-9872-403f-8ad0-eab4afbc7ed2 CLINVAR:3791515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c50427fd-7359-4788-b8da-3c7505b861aa CLINVAR:3791515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a777c86d-3416-44b0-82a6-0c67fe7251d3 CLINVAR:3791479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ca97f7f-5e31-42ba-8e28-7312804cd452 CLINVAR:3791479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48b9a36d-ba58-4158-b3da-bd23cc86c509 CLINVAR:3791466 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b840449a-abf4-44b5-9bda-d2d3215dd554 CLINVAR:3791466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e356ddee-79bf-4056-9bfa-75078f3d3b5c CLINVAR:3791504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92e4b81e-4ead-471a-a54e-6d7fb21e9749 CLINVAR:3791504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74ebefe0-1d2c-4c44-ae0a-53105fec2955 CLINVAR:3791507 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c3a6171-c18b-42f5-822f-0e571457837f CLINVAR:3791507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cb8c284-84be-4179-b3e1-c2b759784a9d CLINVAR:3791492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d400f5d-a586-4e5d-ad16-ff47cf14faca CLINVAR:3791492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e01fc1b-3a2b-4c0f-9113-c6508f8dcd10 CLINVAR:3791468 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4d56d83-607a-4578-b182-4574e638669d CLINVAR:3791468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6da1b92-9cf8-4e37-8c00-26634797c88a CLINVAR:3791493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2cbfa99-01fa-4981-ad49-ac0786e0ba4d CLINVAR:3791493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1784113b-c2ea-45a6-b315-1350114e10e5 CLINVAR:3791487 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5586009-429b-4ce8-9588-cdbaf682a070 CLINVAR:3791487 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900cee9e-183b-4e33-86f9-d929caf68b1f CLINVAR:3791505 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7121733-d83c-4d26-b1d8-e815d90c468a CLINVAR:3791505 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f9928cf-a0ce-4638-b2c3-8a94f000b98e CLINVAR:3791491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7606330-042e-4f4b-9ffc-d412ad134123 CLINVAR:3791491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ba81ec7-dcc6-4a11-9987-3e9760db1b5a CLINVAR:3791512 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cbad78d-2bdd-478f-b156-4a3e44dcb539 CLINVAR:3791512 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd51213-1d6b-41f1-ac73-3cfcc8204265 CLINVAR:3791506 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ba45896-91e6-482e-802e-fb273da119db CLINVAR:3791506 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a26ddc2-0111-4c15-a740-08c1d0761967 CLINVAR:3791490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0f9809a-f11d-4df2-bdde-31904ebec675 CLINVAR:3791490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa3eb58-d9dd-4cef-860d-3d42aa581908 CLINVAR:3791471 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5af6218e-5ae0-4619-b5c7-bb1b06b79a7f CLINVAR:3791471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19a054fc-27be-4bea-89f4-fd7791101c4c CLINVAR:1070970 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aae41b0e-b424-43bf-b57e-9064261d563f CLINVAR:1070970 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d1ae83-9a23-40c9-a9c1-3cc5535e8f56 CLINVAR:837219 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d67bcf78-edae-40a0-9f12-5789264a1e24 CLINVAR:837219 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d40bdbd-5622-4ef9-886d-23a4005ed4b9 CLINVAR:30007 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen deda5e3e-f67d-4792-94a8-985daa086191 CLINVAR:30007 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad39d92-d2bf-4920-9a49-d0518ab36c7a CLINVAR:1177637 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d839b8b1-532c-43b1-8b9f-a5e3b9de9ccf CLINVAR:1177637 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5cfc3d-9d9b-4324-a182-a7d840802de3 CLINVAR:4056142 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d7e8e8d-eb22-4a30-b44b-7c6ea56a945e CLINVAR:4056142 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bb822d9-e92d-402c-b859-c8d9a8b6351a CLINVAR:1323100 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91110212-501e-4b00-b5b1-33e8e684dfda CLINVAR:1323100 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c480f285-79c1-49b2-a10a-e1cbbfc82857 CLINVAR:550421 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae9db632-9799-4c65-99e2-97827c0f73c3 CLINVAR:550421 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ba6abc-fea7-49c7-9c40-91946fb2c0de CAID:CA16020727 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfe2a3e8-812b-446b-a967-9d61a78fd4bc CAID:CA16020727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c360d0c6-390b-4075-9458-21b9872da810 CLINVAR:102617 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a04d6d7-613f-4f96-8aa3-123ae90ca8ff CLINVAR:102617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e6aab2a-fccd-4ea1-9bb8-b86d60c5ddb1 CLINVAR:1514901 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dd8e310-1c3f-4a18-b052-f7d3dc8515a2 CLINVAR:1514901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29a46683-f9ee-455f-a592-47847e410d75 CLINVAR:971992 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen baeee305-7802-40a5-9f42-cb732e00a597 CLINVAR:971992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2174eec2-4237-4a1e-929f-0c93de9b77bf CLINVAR:663720 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 864533e0-8e82-4011-8fdc-8399cf4f75fe CLINVAR:663720 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1ddb8e-6631-4424-b8be-98bb27bd379c CLINVAR:929238 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 975ac0a8-140f-4d8c-a165-96b41d65ac68 CLINVAR:929238 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a582bb8-ef4c-4df6-abeb-7da6114482b5 CLINVAR:1053808 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 429cfab8-180c-42df-ba1e-b5aebe219405 CLINVAR:1053808 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1bdc0a6-9b8e-40bf-a3b4-4b5cb256410a CAID:CA645372298 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bf62f55-94b9-4ab3-b249-752ad8a3c95a CAID:CA645372298 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f5f5a14-4823-4583-b61b-be9290ff9b65 CLINVAR:376616 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f21af897-4899-41a7-90f1-ccdf2fb0f79d CLINVAR:376616 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af07d660-c0ef-4acc-89d0-d7bd295763d5 CLINVAR:1408583 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 884e22cd-3fc0-4ea4-96f3-5384a8f78e27 CLINVAR:1408583 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd7d1638-5989-4bae-924c-d80ede36270d CLINVAR:177879 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1781a6c0-c978-4b52-8755-a3b5a4010a65 CLINVAR:177879 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48761812-56db-4f0f-a9c8-e46b563ac942 CLINVAR:987878 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe5fa0ac-7768-411f-878f-e40755405db0 CLINVAR:987878 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc53492-0d01-434b-b9d4-df78fc2a82fc CLINVAR:142828 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c650ee89-721c-422a-aff9-717ff9cda685 CLINVAR:142828 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b2817c-d15f-4c4a-b7d1-0a3dad18cebb CLINVAR:237938 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d1b4992-b83e-4c87-af90-36be49177bf2 CLINVAR:237938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d59700df-7f73-4332-9ee9-df93b4517adf CLINVAR:142536 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8e2e97b-bd16-4e7f-8604-876ce657166f CLINVAR:142536 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1d8a909-a071-4042-b9d6-8d4101ec5724 CLINVAR:655054 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e41c91a3-1310-4575-bf6b-c566f68d1b8c CLINVAR:655054 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c2eae96-82fc-4188-9399-e4d58510ff8c CLINVAR:662690 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16d727cc-c3d0-4b38-8809-7c6b122511ee CLINVAR:662690 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb12dd6-8dfc-4410-95a9-273b735c2e43 CLINVAR:142206 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cc272c1-af2f-4231-937f-3bdf8c9ed2eb CLINVAR:142206 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7504cbd1-0590-43df-b195-1a95c8394c5f CLINVAR:406597 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc77dd87-532d-423c-84e7-c077044a5cb3 CLINVAR:406597 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc53280d-153b-44cd-89ab-2ebc7afe99e6 CLINVAR:233627 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 616e28b2-7e32-47ec-a5a4-814376fa1f02 CLINVAR:233627 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 855a1b62-5084-4be9-85f5-49d27a809428 CLINVAR:246416 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 025b2538-1c6c-404c-a223-153bd36443bb CLINVAR:246416 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb0f26d0-20f3-4d35-aee8-b64afc8a4355 CLINVAR:823452 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6d1af1a-6dbe-4964-b1bd-5246ac4a3e52 CLINVAR:823452 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 804e5ad2-21b8-4f6c-883f-f3598b8bfd28 CLINVAR:376632 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e62a478-ff79-4482-97cd-3ec88ab8e54b CLINVAR:376632 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c0c6276-65c0-44b8-aada-d8ba200636a6 CLINVAR:528270 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eda0a8b4-39e4-40c9-8574-408aeeab5325 CLINVAR:528270 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e588ed-29be-4e08-a7bc-c39402fc727f CLINVAR:12376 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6b4c25d-9fd1-43fc-a7ce-73d7d08ba832 CLINVAR:12376 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d373a8cb-a072-4390-99f6-18f1386c2cac CLINVAR:184863 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7896d0a-1ad2-4569-b7c6-c34ad07bff08 CLINVAR:184863 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19843cf6-b636-4fb4-b499-bcd61c9ab672 CLINVAR:1053218 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 967b89b6-2f7c-4353-a951-b32be61f1a68 CLINVAR:1053218 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2858271-b7d9-4383-a645-ad346188c94c CLINVAR:855487 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f7d09ef-a3b4-4c20-8ee3-df2e414d9f36 CLINVAR:855487 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a41bb8dd-12fc-4762-813f-068c1b99ec0e CLINVAR:482229 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30ff69e4-882a-401f-8305-62881bf223c6 CLINVAR:482229 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a84cf7c-b384-4011-a384-6f4366a67969 CAID:CA9870021 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6aff5fb0-abd8-4a2f-8470-4d7ac496245d CAID:CA9870021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a034e66f-8570-4fad-bf70-c505c8aa89a3 CLINVAR:803609 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c881a018-6118-42a2-8360-b1c98075e30f CLINVAR:803609 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afbfc251-4ffb-4d81-96bf-d96ba3bad58d CAID:CA409107643 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd5a77d2-a792-460e-abe9-d0c27a4b9fba CAID:CA409107643 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6101a05-2b66-42eb-af67-7bb8e0e07c03 CAID:CA367358007 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e709021a-3277-4787-9d74-f830adcd1453 CAID:CA367358007 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 461aa2dd-2545-487a-93b9-a424e611e463 CLINVAR:3893306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b58a0fe8-15fb-40e7-9f7a-2c1e52573163 CLINVAR:3893306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1da4cb4-ab5f-4e6a-911c-c1cdd902e427 CAID:CA367399229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e6f7418-5f8e-47ac-b6f6-b0886c579621 CAID:CA367399229 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af6996a8-24ee-4740-9e2a-6ba29f46a3d8 CLINVAR:235097 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63c7cc00-95b5-4174-ba38-4057f991bb9a CLINVAR:235097 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 462d3851-2d87-4343-b49c-e3fc44997123 CLINVAR:573130 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9410abe-e116-4dfe-8f97-d78b15eb12a4 CLINVAR:573130 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf7d5438-1957-4a99-a32a-6f09dd28a1e8 CLINVAR:1343440 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5921faa8-ebb6-4a0b-9c21-5f5be1758435 CLINVAR:1343440 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13fd71a-285a-468a-98db-9de2dcecd86d CLINVAR:2138538 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 084c321f-d78c-4e5a-953f-e96848efb64e CLINVAR:2138538 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cac02e4-9ea2-4fe7-abd6-3818ed97efb5 CLINVAR:2430153 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d573574-39ab-4ecd-b2f2-886cce3e9a81 CLINVAR:2430153 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47af8892-92ed-4446-b9d8-8cac3209e351 CLINVAR:1802337 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18b6b0f4-34be-492d-a2da-7ac474af8b3a CLINVAR:1802337 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e064ea98-314f-4291-a625-f0afe63b85bd CLINVAR:866825 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 416ada03-adb7-44f6-88fb-8b4923027817 CLINVAR:866825 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61eb53c3-34aa-480d-a719-156ad6668f76 CLINVAR:143743 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a294b637-32e6-4286-b381-7812a26d71ac CLINVAR:143743 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6ffe716-6649-4f07-9a16-43cef5e186b5 CAID:CA2695195451 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71dd63b5-2ced-4630-bf09-680590338af7 CAID:CA2695195451 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3671776-68e7-44d0-945b-d4a229795900 CLINVAR:3028600 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7898a7d0-78c2-4a67-973b-ecd62ad79c23 CLINVAR:3028600 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05503d47-aa0a-4145-ba89-d98f2f69c759 CLINVAR:98727 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 966ae3f3-6563-4f3d-bac3-7dbee1e56a80 CLINVAR:98727 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cda5923-5d41-44bc-800f-71d90d45ef98 CLINVAR:98728 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbb2719f-1421-44a5-83d2-73767d481d07 CLINVAR:98728 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9affce3f-7285-47a6-b11b-91425ca9ad76 CLINVAR:98729 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b066740a-8b42-447b-9dcb-73454da38725 CLINVAR:98729 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02c1b8fb-882b-4e0a-87e1-31500bf59ff3 CAID:CA412739890 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3979050d-86ed-4e2c-b0d7-de49ba695f2c CAID:CA412739890 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b1fd195-385a-44ec-ac2d-5b4299d32d14 CAID:CA412745793 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b85e679a-cb15-4b45-bcec-f22ff41c9e4c CAID:CA412745793 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bec1e989-d967-4833-8c47-71ff54819aa0 CLINVAR:812418 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7338dbc-35ba-4c52-9152-8ed6a7a49392 CLINVAR:812418 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 668f7b81-15b0-450a-b019-16fbece5cbcc CAID:CA2573131851 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 494f9c8f-5bd4-4e1a-a2f3-b3d3f8688f10 CAID:CA2573131851 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87fc9646-365b-4633-9f08-b8e8e3031bcf CLINVAR:1707409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f11c107b-6886-4933-aafd-e9cd6ba30aab CLINVAR:1707409 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ff9f2f-2093-483d-bfd7-5aab223223b1 CLINVAR:975133 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2607b7d8-646b-4055-9a0f-c3fd8c8b46a3 CLINVAR:975133 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4758a750-c6cc-48a7-8634-6d75116b9211 CLINVAR:98742 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a413a7f3-dfb8-4097-b473-c0b7dffd7945 CLINVAR:98742 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17cbbb33-3b71-4b88-8a48-c02e299e876c CLINVAR:98746 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b319a692-76f4-45fb-b4a7-5caa7e4012c1 CLINVAR:98746 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a09a0add-e0e5-4c4a-8b0d-3012b1cde88f CLINVAR:1213922 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14c8f004-2b56-4593-acc5-00901620c61d CLINVAR:1213922 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 221483c8-155d-4346-b72d-882e2d7424fb CAID:CA16020883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40180221-0201-4d15-9fdf-727ac53a7c8b CAID:CA16020883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b91f202-2a0d-4f22-9443-faee526679fe CLINVAR:2417518 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28a5d2bb-d311-4931-adaf-8bd1daacaadd CLINVAR:2417518 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333a7e5d-fed9-4aca-8ccb-0e5ba1f4f8d1 CLINVAR:1297114 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9de408f-194a-4eac-a457-8de492637f27 CLINVAR:1297114 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 216c1e53-6778-4d0d-a759-ae46f91b9104 CLINVAR:866755 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd756525-ff90-413a-8766-7327be4a73fa CLINVAR:866755 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa952713-f03f-4bd2-8846-f444bcc519c7 CLINVAR:1065689 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec84b123-99ef-4c5c-8688-664776a55ce9 CLINVAR:1065689 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11360c24-5512-4a96-8437-0121805f612c CLINVAR:1676154 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8c23699-bffd-4094-b645-55d2caa9e618 CLINVAR:1676154 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc2b9b22-34f8-49fa-97b8-4fd9c2f65293 CAID:CA412745623 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60d6c715-cb2d-4cf9-b9ce-d4aa8d03f55f CAID:CA412745623 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a75aa5-96fa-4cca-8214-46d2a2aa4b49 CLINVAR:1275779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3977ec54-c6e1-470d-9136-8a75186fccf9 CLINVAR:1275779 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dcb1043-f317-489c-bfe9-3bed98d12bd8 CAID:CA412731265 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18a823b1-8e3b-4c32-952a-8d8aad241d67 CAID:CA412731265 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 108d1fad-d280-439f-8623-d354a12eb535 CLINVAR:2099208 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1d6eb0d-a8d1-43d2-93d6-9ca87fe0d18e CLINVAR:2099208 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6169ffcb-9b55-405e-a973-90d3cb5e9bf9 CLINVAR:975136 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4b637b9-846e-4445-9a08-a8516db91217 CLINVAR:975136 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d70e0e8-698d-4f65-bb82-54de16773d0a CAID:CA2588340080 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d754cd6-0281-4314-8bd4-43729d09a883 CAID:CA2588340080 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97822481-ad84-4fa9-ac06-2aca4955baec CLINVAR:30006 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 542ab78f-8f94-40d1-aa5d-9d7f79216b5c CLINVAR:30006 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72b3b4fd-61e8-49a1-a013-a83bacfe9ea0 CLINVAR:690063 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61977b96-f31b-46cf-9539-84bf118c9748 CLINVAR:690063 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f5fc04-4cd2-4421-8d2b-e654e6088324 CLINVAR:9619 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9d319d6-9606-49d1-94da-c3e8e72d0d6f CLINVAR:9619 biolink:is_sequence_variant_of HGNC:7478 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64846f03-981a-487d-88d3-48e9c6def32a CLINVAR:692374 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 464fd8f1-ffc3-4fa7-bb83-3491ee4c3df4 CLINVAR:692374 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a9961bd-c143-457e-aa29-687c5d9aaab4 CLINVAR:155893 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7da1de5b-0e1d-4727-bc28-3dcc2092abcc CLINVAR:155893 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d33749ac-2d2a-49cd-a337-567067776d4c CLINVAR:155892 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98fbfd91-1de0-44c3-b6e8-3c2a9e6e0e8a CLINVAR:155892 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20058af1-73e2-4328-90d5-ad3fb67b17b6 CLINVAR:1328561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe64ba67-6276-4ce0-a124-bc5ce865b3f5 CLINVAR:1328561 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 868b6312-8c2c-4647-9738-011e4f33a521 CLINVAR:9589 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5eb303e-978e-4460-b12c-304e7eb913db CLINVAR:9589 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e156859b-da67-4910-b4f8-bf44594cabb9 CAID:CA415077248 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 495dee6b-b3c5-426c-a098-f97bb63e124b CAID:CA415077248 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea1a63aa-7d29-4252-8485-a3bec5f181d0 CLINVAR:11701 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c437a533-6f11-428c-8b4d-1ff69cb2c262 CLINVAR:11701 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63496194-85b5-4f7f-836d-41c347588ed8 CLINVAR:2504565 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14e210e3-75b5-4f11-ae06-7540eb6bd74b CLINVAR:2504565 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd3a1b92-a7a0-450d-a65d-1ddad41638d6 CAID:CA415080308 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c966b636-1a02-4df7-a1bd-6a81a0cfdb45 CAID:CA415080308 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a3c12cf-46d7-4a56-92bf-e3ede47bf322 CAID:CA415086207 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dd85425-3535-4596-afff-bd13755439ff CAID:CA415086207 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ee1773d-af03-4f4b-8aae-4e4d05631ffc CAID:CA645530575 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d8ac075-faad-46a2-bcd7-c244d69df76c CAID:CA645530575 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0732d0d9-6d26-4e9b-bab6-962319e2f63c CLINVAR:284800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c21001e-72ac-4a2f-9a0c-0e3a2f6cefae CLINVAR:284800 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8251bc81-e22e-4ab8-886c-c344c1341e6f CLINVAR:94352 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4b65dfa-37eb-4d16-9df3-a544efd684f1 CLINVAR:94352 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25d908db-872d-4967-93a1-da6b4a6f8fd5 CLINVAR:6679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2316726a-4d91-4512-bb6a-8e50559a9e31 CLINVAR:6679 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e69b26b0-2e60-4dc5-86c9-4d4a890631ec CAID:CA2586969497 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f15579b-0bd5-4e5b-895f-3eb4bd1322d2 CAID:CA2586969497 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d9fdb5-3377-4009-8e08-279214bbeb0d CLINVAR:217227 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d932a58d-866a-4f1f-836b-704599763faf CLINVAR:217227 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 030cc818-9b9d-4c49-bc4a-a8ebf27f68c8 CLINVAR:1433815 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82f6fdf1-dc81-4e17-97e1-468a8ff9e2fd CLINVAR:1433815 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56dea8d6-8fc5-4678-a8f2-050f78002799 CLINVAR:194805 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4a6b7a3-8752-40a2-98f7-68fae459000f CLINVAR:194805 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4133c1-fec4-4262-bba6-d1862506a1a6 CLINVAR:284469 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc05c85f-c5d8-462c-a735-c32bdd369aa8 CLINVAR:284469 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c8b0ca-5cf7-4ebb-9b30-a5e3c1cc2e9b CLINVAR:984127 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d938888-721f-46e8-9ed2-937a5bcfbfba CLINVAR:984127 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30fdd8f-0f04-4d86-9344-dd591a58202c CLINVAR:94263 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cbeba80-222c-44ef-954d-5ce9ab823e69 CLINVAR:94263 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f978751-9a3d-4646-8ff9-bfd199db0913 CLINVAR:550946 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84bb7019-c94e-43ce-a50a-09a67fbc3cc5 CLINVAR:550946 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52fe81d-7e2f-40dc-9a36-006cc0634994 CLINVAR:374503 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efe70dfe-a77b-434f-8867-7557cd055399 CLINVAR:374503 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 354d2700-709a-418a-b256-0d43d548144e CLINVAR:496872 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6df89422-5743-494b-9880-54c76a0535b0 CLINVAR:496872 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d9fee3a-be46-4ba1-b2f6-78faf07d4ecb CLINVAR:94271 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fda1cde8-8ae9-45c0-b6de-415f71a9c71e CLINVAR:94271 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 522b1392-c029-46c8-a92b-bb48621c9bba CLINVAR:2674961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6f1aac9-a8b9-4ca3-a9da-8b51e1ab9c34 CLINVAR:2674961 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b056d2-dae4-4a90-8bb4-1e20e0eff705 CAID:CA347220794 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1a98135-4880-4220-961c-727da23251a5 CAID:CA347220794 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21fb2c7-f581-4583-84e2-c465bd37cf71 CLINVAR:429885 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen effe68e4-ba3e-42c0-8d6c-345ff7ce5df7 CLINVAR:429885 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5547f3a-7e5b-4755-a365-2a7a016faf3b CLINVAR:217225 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3399f88-ae2a-40da-a7e0-c7a38fc642c9 CLINVAR:217225 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd746a81-535a-4a42-8f47-2123da043af8 CLINVAR:265108 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60b72099-e0e8-4a87-a6ed-e2126f95ca2a CLINVAR:265108 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b85c617-29f7-47c9-aa0f-3ecdf37e4576 CLINVAR:498353 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a573d0a-5140-4b4a-88a6-dc331028ed42 CLINVAR:498353 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8077fbd4-ccfa-4bb0-8625-8c7e10df512a CLINVAR:94337 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a9eb9fd-aa65-4038-ae29-53f3363dbf2f CLINVAR:94337 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d23d1da-5e7b-40a5-b0f2-5179243e8abb CLINVAR:284804 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87ca5aaf-5f26-4669-a421-535318d9819f CLINVAR:284804 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f45c1ac-12b6-45a7-8a7d-85e52f17eeb9 CLINVAR:94274 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae7825e6-7c23-430d-b189-4db38deac7a3 CLINVAR:94274 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48490f30-7d77-44aa-94f9-48e08b3f37b2 CLINVAR:6682 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7b04434-ca03-427a-9404-ebd7429c92f4 CLINVAR:6682 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b60ab61-d7bd-4332-b1ea-b51e03d5dfb5 CLINVAR:6681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6fdad04-4bc6-4904-a24c-92aba91b20bb CLINVAR:6681 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80eb3369-fc81-446b-9ab3-2076260c0f29 CLINVAR:837557 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2825aaef-ad5c-4574-a5de-ad3e99afef13 CLINVAR:837557 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8810fbd6-b19e-4f6b-8c98-10a10d9ecd56 CLINVAR:6675 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56a89846-0e58-4bba-895c-a07b60799b19 CLINVAR:6675 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0c57c13-45fe-4475-a6a2-10027210f93d CLINVAR:18443 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1041b62-3081-4ce6-a378-e6d036826147 CLINVAR:18443 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77884f91-61e8-4cb4-8660-cd388488f217 CLINVAR:94340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 052c9a81-2754-4d06-a24c-2f5efa8da5ef CLINVAR:94340 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec6ec719-ede8-4f5f-b62f-c285cd76d9da CLINVAR:6668 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ec14df7-fe88-42db-9e20-97cb65f6d39e CLINVAR:6668 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 069cf411-fede-45fe-8ff4-7311e05ffea5 CLINVAR:286151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c824668e-68f3-4761-b920-c9f6481827bc CLINVAR:286151 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0664264-bdfc-46ec-8b31-ed44c742c946 CLINVAR:502095 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d5cb0c6-974b-49cf-af41-e9e056fe7e1b CLINVAR:502095 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a80a44-6a35-4ecd-949f-97f43432da35 CLINVAR:2018639 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f96429ad-7c6f-483c-ad91-785276765ce3 CLINVAR:2018639 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ccbffa-cb54-4c6b-8dd3-77447aaab6a5 CLINVAR:283474 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f64ccc81-8846-46e0-94b7-634885e998a6 CLINVAR:283474 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5155d03e-dc94-4d6e-aff7-58557670f22c CLINVAR:203587 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c27d8601-31cc-4953-aab7-556dfd7314a5 CLINVAR:203587 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae2bafb5-10b5-4f55-8f5e-18e54f68fe94 CLINVAR:429246 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49c80469-78c1-40e4-a2fe-60038d002057 CLINVAR:429246 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aded29d4-2531-4bef-89de-1a147df6b24f CLINVAR:102571 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c39e4e8c-7aca-4401-a3d1-ce111e14286a CLINVAR:102571 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b09509c-020b-4fd8-8bcf-5fe044202ab1 CLINVAR:102798 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1085a104-1755-4087-86ca-cc15a8f9412f CLINVAR:102798 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 936595b7-7a73-4aa3-af06-2ee8ac5eda7d CLINVAR:102547 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b1dfa28-db2f-4f6e-b673-aa8c23697c79 CLINVAR:102547 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0fb0e99-d198-4992-8cd1-99affc1ca474 CLINVAR:462651 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 955604cb-f993-4c3a-ad2e-7cf927b0e63d CLINVAR:462651 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c8e7afc-c7cd-4650-a0ba-35146b1d9cdc CLINVAR:52411 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec849196-d66b-421c-92fe-befe1c92f30b CLINVAR:52411 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75965dec-06a3-4567-b650-a91169b2cd6d CLINVAR:52563 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c233c7a-7705-47da-9ac5-913192188687 CLINVAR:52563 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7a5729-747f-46ab-9f54-65619abf9e57 CLINVAR:373826 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ac94c8f-ab40-42e5-82fe-79a1f33dbc7c CLINVAR:373826 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4dea4a-0cce-489e-97d5-867ffaa66d6e CLINVAR:232047 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f8fc19b-3304-4067-bbd6-f08b1730a05d CLINVAR:232047 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b365ba6-cfff-40d5-a85d-00631b17b994 CLINVAR:96949 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01e700b4-fbc1-41fa-9334-02baae50da6f CLINVAR:96949 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbfa4036-9998-4e8a-9cbc-11b38ef8bf53 CLINVAR:52491 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a219996-75ee-4b6c-8716-c84813d67083 CLINVAR:52491 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1760e7-5ed5-432f-8620-3f9b8de22f13 CLINVAR:479367 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c1f2df1-70f4-4d0b-9f6d-155d0881c021 CLINVAR:479367 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3c8246d-6b87-4f93-8ec5-6e40e49ab970 CLINVAR:216263 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1d9c5bd-1604-4e49-8b6a-29279e1da278 CLINVAR:216263 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8547212f-3ab0-41fa-b221-808d41d26d3a CLINVAR:55482 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad7696b6-1619-471c-93e9-a5a157a14d7f CLINVAR:55482 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49603ca8-a401-433c-84b1-0e2cf9268812 CLINVAR:55631 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2515a4f-1b20-4282-831e-346f5776c659 CLINVAR:55631 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e62ecf7-a1a3-4b6f-906b-fdf5d0bdafa2 CLINVAR:421439 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e70c066-5548-4276-af47-5e4ffa9eabf2 CLINVAR:421439 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5939b054-c949-4048-9730-920038ef2732 CLINVAR:55399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2cdf2c4e-ffd6-4fb2-86bf-e90a9e9af4ae CLINVAR:55399 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 898271f3-718d-46e6-befb-82a2a517d0f1 CLINVAR:531399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7b123a4-c12c-4acb-ae31-4a554f278185 CLINVAR:531399 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d962d52-0ae6-4a6e-9ac0-bac71a32ca3e CLINVAR:37650 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64bcdc1e-8017-478f-81ab-00547e2b8f0f CLINVAR:37650 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3dee646-f45e-4449-82ce-79bfe473be4f CLINVAR:55530 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd89ec64-754b-440d-9628-73ac8e51b09c CLINVAR:55530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2147d1c-25d4-4b34-86d4-e7ebbc1f87a1 CLINVAR:440481 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0e8f7cd-f0ad-45c2-9ddf-9ed6e68a705b CLINVAR:440481 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8b0c746-b192-45a9-9607-da99c3344ddd CLINVAR:868490 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f2b2105-a270-4902-9a47-2d741316dce6 CLINVAR:868490 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 469f249a-2cb5-4892-a43d-aa3d393c30a3 CLINVAR:629251 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5fcb20db-1f02-404f-9611-9fe2fa5d8abb CLINVAR:629251 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e4699d3-646e-42b1-917c-c06d746a327a CLINVAR:531444 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3248d298-bb45-4eed-a4ef-fd0e56aa01d5 CLINVAR:531444 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4092ba8-1530-455c-bd09-9b098da47f6f CLINVAR:52056 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ac78a1c-8c2b-424b-a404-acc0089f0daa CLINVAR:52056 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95de0ae3-a3fe-4b59-a7d1-fe898f510120 CLINVAR:252889 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb7c2c33-1c4d-4771-a845-fc0173dc48e0 CLINVAR:252889 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe702d1-a93b-4d53-be01-c37453acd1f7 CLINVAR:368117 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 326de420-5db2-45bb-878d-642139bffac2 CLINVAR:368117 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6161f997-4976-484d-949a-b95c06e3d544 CLINVAR:1029498 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e5f598d-f61b-458a-af21-c4b9cc911118 CLINVAR:1029498 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ae0ea5-810b-48be-bfc7-c756398db96f CLINVAR:811219 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1bad99a-64e8-4106-bf77-37b728a84da0 CLINVAR:811219 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e2bcfbe-a879-4124-a389-3c5d0f99f0dd CLINVAR:1512896 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 939ef6c5-86c7-46e1-b5c0-74b8bae8f360 CLINVAR:1512896 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e6bebd-add3-41d1-85a8-d247bfec1ac3 CLINVAR:626973 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eca8a0fb-7343-41e7-8886-bd2e0270a05d CLINVAR:626973 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c790c0fa-0c15-49a7-8213-d40cbfa2eac3 CAID:CA414914381 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cedba7fc-7b7e-4eed-b0e9-35643aa13221 CAID:CA414914381 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1066497-ac41-401f-99f7-7c20a3edb017 CAID:CA414435714 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2429ba1f-468a-4439-987e-9a223141d032 CAID:CA414435714 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2401181a-3124-4a70-b4c1-b7b227342ee9 CLINVAR:55397 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38637782-9a9c-43c5-a5b4-e6f9b32d88ff CLINVAR:55397 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1816a0f9-cfb2-4242-9f64-dd4284872658 CLINVAR:940200 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b165f397-7c0c-4d9e-a6c2-e1f63cef1291 CLINVAR:940200 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23083f18-349a-4db9-becc-7ed00a970df9 CLINVAR:251515 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed74041f-0677-4578-a5f1-0fd273983aaa CLINVAR:251515 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c976493e-567f-4b79-9b74-aedba245b79e CLINVAR:226380 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b34de317-3856-4a8f-9bc0-d465a3b8515f CLINVAR:226380 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ae4dd8-f472-4b2b-baf1-5dcefbfe3b08 CLINVAR:226379 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eddbcb20-17af-4148-8369-3b208da451d4 CLINVAR:226379 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4540e0b-b3c6-4747-be8b-95b03c8850c4 CLINVAR:252107 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd960d1f-bfaf-4f4a-9187-17efe429ff1d CLINVAR:252107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4e768cb-8a0c-4796-a547-1895b6c4e9f1 CLINVAR:14209 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94d7adc2-3e81-4bdc-9851-b1f2f67e6774 CLINVAR:14209 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66c3bc3d-ceee-48e4-a0c5-db8567092c01 CLINVAR:926510 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9de72e65-3a23-4d99-b484-0c2af636cb06 CLINVAR:926510 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 179dbc84-e032-4c6f-ad1b-eb7dd0180609 CLINVAR:975142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3efdd63c-851a-4f34-b3bc-2b785998fe2c CLINVAR:975142 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01645b7c-018c-4348-9189-3e160d8c9275 CLINVAR:865892 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 673a0238-580f-4bb6-8efa-9a703d1c1957 CLINVAR:865892 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10dcfd14-b0a6-40b5-8451-f2e1e25599f8 CLINVAR:866844 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fb1d1bc-cdd7-4ac7-ae5f-d7484494e8ee CLINVAR:866844 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b72b580-0a3e-45a5-89db-c28d1aa02601 CLINVAR:1802355 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 148549f5-c5b9-4fb9-9953-ec951da70fc7 CLINVAR:1802355 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e76f9037-a0e9-4c19-980c-9d74b44db622 CAID:CA2677125568 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f61d0b72-4810-417e-b799-f999bba02ebe CAID:CA2677125568 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ef599d-4cb6-41c5-a441-7f87d88591b0 CLINVAR:251112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be7e2b68-cebe-4e92-8f00-eb6099ef2820 CLINVAR:251112 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81b328ca-2f04-4a24-a2e4-e1a04d0ae6ce CLINVAR:251113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d926c54f-b1ec-4755-b032-70848025b84d CLINVAR:251113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ef69e5-65a1-4876-be13-9ef09d2077d5 CLINVAR:250958 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 561f623c-2717-4393-9e5b-faa3042f977b CLINVAR:250958 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7850fe88-8674-4184-89ad-35561a583e17 CLINVAR:3351476 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9a84023-19cf-4ddf-9abb-dc5a504c1684 CLINVAR:3351476 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ced9827-aff7-4b93-82f4-56adb09b8c58 CLINVAR:2574633 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94db4152-0a08-47ef-8a88-34af5e43a12c CLINVAR:2574633 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42545bbb-ab93-4bc7-bd6e-97704eea7f48 CLINVAR:1350522 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 653ba510-9fc1-4306-bc92-0997239bccea CLINVAR:1350522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d92593d-e61c-42f8-b846-cd7c8fa7e199 CLINVAR:447426 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 140a45c9-0f81-4421-aa51-38594899ab37 CLINVAR:447426 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ec0c9cf-b690-46ac-9b5d-bf02bb37860e CLINVAR:2582713 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 057bb7c1-c06b-42ac-a94e-3fa11be51c2f CLINVAR:2582713 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b808b2fb-4919-428e-a0b5-9fa7e09656d7 CLINVAR:4077388 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 399307da-e07e-4fba-8b71-72549cf3029c CLINVAR:4077388 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 307746be-554f-4c11-b9d9-9d70fe6d62fb CLINVAR:4077385 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 338c8974-01fe-4f3b-ab6f-2dde7a2e121b CLINVAR:4077385 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb6bbdc8-9f69-402c-b2f7-5f873b31f983 CLINVAR:4077384 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66e61da3-4683-4279-9c06-c073085bbd1a CLINVAR:4077384 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92590435-c94a-427a-a7e5-d14105a38cbc CLINVAR:4077386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d02edf2-1f7a-4062-a5df-b81e40145c1e CLINVAR:4077386 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8e3674b-64c3-48a4-84d7-2126df4cae97 CLINVAR:4077387 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b8b31d8-f401-4e0f-acfe-721f47e53f3b CLINVAR:4077387 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d49cae35-51fe-4170-aa87-d20bd543c4b9 CLINVAR:4077381 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28a07c62-ab94-4be1-ae77-f4003683dfb9 CLINVAR:4077381 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f112c419-e244-485b-afe9-bdc2ad29e194 CLINVAR:4077382 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5ccf217-0171-4910-af64-ea418ae86b56 CLINVAR:4077382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d309389-ad3a-49c3-8982-eff454943d99 CLINVAR:4077383 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 200bec72-950c-45f3-a688-b23308f6c497 CLINVAR:4077383 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20a6198c-c899-4f29-ac9a-8d251057617e CLINVAR:4157 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6efa9ca1-fccb-497f-93c8-44abadc35742 CLINVAR:4157 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37da350d-d8ab-4158-86d2-b30fba3c7740 CLINVAR:1677212 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47b1626a-1aac-4961-9981-a5e78f6c531c CLINVAR:1677212 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f06265-bc16-4660-a9e2-ddfc9edcf040 CAID:CA2695202181 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7c89866-0bb3-4a22-9515-b43fe8fdfb84 CAID:CA2695202181 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb3f92c-2b15-41e1-9545-4ae96ec5ae49 CAID:CA2695232668 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b205fff5-232f-40ed-b396-72ba836c1458 CAID:CA2695232668 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba81e878-bd69-4a73-96e2-e0ca872885ae CLINVAR:867143 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78f0c3bf-59d5-4097-9963-17e9cd058db2 CLINVAR:867143 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a31f4ebf-4e51-49fa-ad85-410558cb05cf CLINVAR:1297120 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12c23a86-98f3-4d4f-876e-eb39fe94dacf CLINVAR:1297120 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41e5e06a-206c-40c4-80bd-9827594079d4 CLINVAR:183262 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02280286-8e74-4f5b-bd4e-6bccaa24ee85 CLINVAR:183262 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84c5ebc9-d49d-4c4a-9c07-21637140737b CLINVAR:865888 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec37dd26-667a-4ed7-852d-15bc2495f176 CLINVAR:865888 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2444dc5-621d-4a0e-af0e-a0eb59c92ff4 CLINVAR:620583 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b240094b-ede6-43ba-93a3-786a65ef0627 CLINVAR:620583 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f04d33d3-c2e3-4a54-a496-8d60fe75727f CLINVAR:1802335 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4866ac0e-bca5-4c10-9548-8e19ef25bf65 CLINVAR:1802335 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd1a0f7c-72ee-42ea-a413-ae390a4430b5 CAID:CA412730484 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f8017bf-c19a-4bc6-b70c-5291951299c3 CAID:CA412730484 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3eeede6-3b9a-4118-bf70-a004438f82f5 CLINVAR:865886 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91e25be4-5cb6-4cf3-ab47-66e1cb9a1d30 CLINVAR:865886 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 416af0fa-b5bd-43bd-92ca-13e054d252ea CLINVAR:867074 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bea36bd-d6fe-4aca-9af8-20e61f8ea9bc CLINVAR:867074 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0313cae1-448a-4ebe-806f-dbc65ef19576 CLINVAR:866274 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd9fedce-efb3-4809-9e2a-4a9bb6148327 CLINVAR:866274 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4239a346-05bf-4118-bca4-242d7a3fd983 CLINVAR:555213 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 506764c7-5d39-4383-a747-866f80d88406 CLINVAR:555213 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b586090c-c232-4726-9f84-e59f9e3b3d6e CLINVAR:1300185 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f60093fd-ca05-464f-8d1a-87de0ec92cbb CLINVAR:1300185 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c35977-75c6-474f-b08c-2f4f9f544ec9 CLINVAR:217157 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23a112a2-7533-40f1-8eae-b765e28e0ece CLINVAR:217157 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f52eb2b-c35d-4478-a666-0b7f26af7b90 CLINVAR:194354 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e27b469-daca-4f9d-8ca2-5c008167cc25 CLINVAR:194354 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca6ba941-e3d4-4208-9896-c3ed9e47a922 CLINVAR:813970 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 789f62f0-aa69-403f-8bfe-2330a5208c49 CLINVAR:813970 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca8f9d9a-9924-433a-94b7-1b7b806c82cd CLINVAR:935255 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94bba0c9-fa5a-44f9-9ed7-0349eee2aebe CLINVAR:935255 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c39c4e10-96eb-468d-9480-5a486f4c8403 CAID:CA2573052014 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56c35b1a-746a-4106-9788-2489ef8aa284 CAID:CA2573052014 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a63db4a-b753-48ce-96e9-90aa5f7b559f CLINVAR:289245 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a9edcc8-e56c-41e1-880f-c899c3bd82d7 CLINVAR:289245 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c93ca55-ad2b-4e59-a566-1963aaa58d87 CLINVAR:288116 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 993b0561-9782-498a-a5c2-2526fba51d83 CLINVAR:288116 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66214a06-cc8f-459c-82c9-888357d8ec82 CLINVAR:858180 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2487d49-9ea2-4f6c-8eec-510f591f7b77 CLINVAR:858180 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c18cdac-6599-4186-b380-1322ce906a10 CLINVAR:281012 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a12e547c-cc81-429a-89bc-030bfe1f0eee CLINVAR:281012 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2d006f-d046-4ab5-b310-dd8628c65e71 CAID:CA347216867 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c44df4e5-a83e-476e-aa94-0818378014aa CAID:CA347216867 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cebcd1f9-6cf6-4c69-9521-4d31b41eb44a CLINVAR:1802365 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3cf1a5f7-b79d-4c83-b828-258704907447 CLINVAR:1802365 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3977189d-0452-40a8-afc9-fdd62ad19d4a CLINVAR:9908 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89f999ed-cfe9-419a-a5de-6bbb3b96e88a CLINVAR:9908 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919c2d50-84dc-4219-be7c-0844b54eedaf CLINVAR:866097 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e31b5c72-89c6-4ea8-8922-9c69df4eb15b CLINVAR:866097 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 521b2956-2f40-4241-ab19-acfb4834acff CLINVAR:1455429 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4751a25b-3264-425c-9a7e-e5e355be6a49 CLINVAR:1455429 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 767bf940-90aa-4b19-97f7-214c89f64da8 CLINVAR:866316 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e838d75-4527-47c9-a1e7-17fb9e6ab0f1 CLINVAR:866316 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f14e7501-0108-48d5-ab1a-1b6836e51b2a CAID:CA2588340081 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14b64bfc-be7f-4a51-904c-612eb919b97f CAID:CA2588340081 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 907bca25-1804-4027-b643-8881343f1cfe CLINVAR:865798 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91cc3846-a935-436d-b62f-f3d4b278d6e0 CLINVAR:865798 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daf5df80-c56b-4d9b-990d-bb8edf0e31e7 CLINVAR:1802328 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0dbb21e-ba28-4e39-a923-75de271f83b9 CLINVAR:1802328 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8593ffc7-b3bf-4386-897a-94331e8e1f1a CLINVAR:1802369 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90c98cf7-efed-4e1a-81a3-f03ea0d416e7 CLINVAR:1802369 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c11ff17-524d-4e5a-8217-02cdf95fb5a1 CAID:CA2581463496 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b97fdad-b169-446b-8cd0-9e4b9afa6efd CAID:CA2581463496 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa19464-66b8-4cb9-8d36-74d0b3f1ecfe CLINVAR:2138533 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0886fa49-7013-42ca-91b8-ee374d5c21d7 CLINVAR:2138533 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61dac950-1479-41ce-bb72-d052947e79d2 CLINVAR:812411 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c0f6663-11b8-482a-a5a4-23f796ac842b CLINVAR:812411 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36dd7e74-cf8b-4e39-a130-8ce240ce0eb0 CAID:CA2695202259 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 428bd016-76d1-4bec-80f3-78dfc49a7ebb CAID:CA2695202259 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 364e40f9-536b-450a-95d0-e90cf39060ae CLINVAR:98771 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27f660fb-494e-4e3d-a6f2-21197ce9ceea CLINVAR:98771 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9b461c1-a1b8-4d20-a0fa-cc3dfc0907e8 CLINVAR:636110 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 573dc19d-cedb-4d50-bdc9-fdc8e0758d65 CLINVAR:636110 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a7d367-571f-42e3-bb0c-b5549142ee94 CAID:CA412729749 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab05b5db-cfe1-4a04-8304-cd0946744beb CAID:CA412729749 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d531d15-8185-4b9b-9d67-9777268a4fb8 CLINVAR:2430223 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 021ad76c-2a69-4d16-a3be-f273ba827768 CLINVAR:2430223 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6165337e-4a99-4f69-ae9b-17f57794bb3a CLINVAR:2430151 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cc47175-cffc-43ec-9948-f8978846dd42 CLINVAR:2430151 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f695b7a-7a13-4380-8263-487184eaf6de CLINVAR:9917 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ece2661b-4195-4244-a087-8c4c726f704f CLINVAR:9917 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435d8e13-1f4f-4984-b0bd-08deddc3950e CAID:CA2588340082 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c136884-7672-4f45-bcef-44bf254378fc CAID:CA2588340082 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e4d218-c451-4b57-b4fe-a69513e87434 CLINVAR:624397 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31ad1738-8ab9-4af8-b45b-50a46cd2a8f2 CLINVAR:624397 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75b850ac-0d62-481c-ad31-f48ce6086637 CLINVAR:3249360 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4265854-87b1-4f14-aa79-c048d3aacc0a CLINVAR:3249360 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23be7d5e-493f-4448-8f47-4df1b0840873 CLINVAR:9912 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfa3c0e6-3c0a-4fc3-805d-669215854643 CLINVAR:9912 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fddf5c2-15d5-440b-b03c-6a4d28f98aa1 CLINVAR:811889 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae47b268-897c-46e0-bb5f-2a375cf94d38 CLINVAR:811889 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed7bd87-0d95-4842-975d-d9daa9064b85 CAID:CA412745199 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30ed1b76-9d80-466d-804a-e088c40c09a0 CAID:CA412745199 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4423e9c-116a-4193-90d0-12a450503afe CLINVAR:98782 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ea2875c-39f1-4a04-9640-e86b908e437f CLINVAR:98782 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 704155bb-6a19-40b8-912f-ec570d1786bb CAID:CA2695232559 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93af8287-732d-49fb-860d-0ab8eea52ae2 CAID:CA2695232559 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6bba0e8-6f62-41a6-99e8-5d1d2ae6c572 CAID:CA2695202180 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ddec6f6-4853-4d84-bd1c-104e5d38fed3 CAID:CA2695202180 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4665898f-e878-4694-9c44-bf9d130442ca CLINVAR:1685804 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb38f66f-cae5-4593-9ba6-2e28185be6ce CLINVAR:1685804 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b24653-0e8c-4f22-8c28-cb8f90895cab CLINVAR:812409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cae3ac2e-4294-46d6-9012-8abc5e276b78 CLINVAR:812409 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd41f1a5-30ad-44f1-a267-354fe10ab097 CLINVAR:1802373 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5a376d4-c076-4861-9706-8f393ae7154c CLINVAR:1802373 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f104e01-fbd5-4192-935b-652dcb1d3aa1 CAID:CA412729246 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d28014d-6fda-4269-9677-31d62d314e8c CAID:CA412729246 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd11a5a7-f897-4fa1-9c74-6b4fde85bcb1 CLINVAR:1012646 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf0a3575-86f9-4f76-bef8-4aa3da2724b1 CLINVAR:1012646 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094b05bc-e74a-40b9-be52-4035a44660c9 CLINVAR:9911 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ecda9ad-8e19-4812-92a1-9ba80a1a4e44 CLINVAR:9911 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f37a8824-28b8-476f-bfae-7dbbceec1fd3 CLINVAR:866381 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6efba1b8-c70d-458c-92b6-e0d42e48ce84 CLINVAR:866381 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d442363-859d-427b-bce0-06871bab6354 CAID:CA412745347 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06d2715b-9fb5-43e9-ae79-493cc573fc05 CAID:CA412745347 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f856ed-8861-4596-9b5d-9d78d1c267c4 CLINVAR:98779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7ce72f6-4e32-4c36-8f5b-901ce88ac363 CLINVAR:98779 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af229439-6539-4731-aac4-239ec698afe2 CLINVAR:98780 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bcd726c-a78a-4224-81b6-ee89ebe82b60 CLINVAR:98780 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 605dd5c8-c443-41b2-b58e-b051c97b4ad2 CLINVAR:803964 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e7d88e4-6621-4438-b853-c8f5249806c0 CLINVAR:803964 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a922e031-c594-4ef6-8810-f959bad7cfe2 CLINVAR:1284488 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f17ac3e6-0774-430a-b043-d1d3309bf95c CLINVAR:1284488 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90149fa5-7da8-42cd-982c-05acd971ffdd CLINVAR:1802283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0237c60-abc5-4128-8dbd-ccbbdd4e1676 CLINVAR:1802283 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bbb7756-6d2b-4c85-b3a6-a7ef09d43781 CLINVAR:2138526 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d56d4700-0ddb-42a5-b16c-97256a6991ca CLINVAR:2138526 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a33c5da-c48c-4abf-8a76-e61855cbede0 CLINVAR:2099207 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 137e9336-8766-4726-93cb-10d6e8e75b55 CLINVAR:2099207 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fab0e76-8a03-45b3-910d-f0b22d2abbee CAID:CA2588340092 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4761c42-3eae-4127-84ed-11c0b51d0258 CAID:CA2588340092 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5722066-ef01-40c3-b2ba-22775200f2c2 CLINVAR:2787059 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6e09452-8ad1-4398-aac4-a596130c5007 CLINVAR:2787059 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52affb40-6871-41e2-a136-61a6dbacd246 CLINVAR:98787 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61fce699-4f23-4b54-9906-eba4975667db CLINVAR:98787 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c83da6cc-0357-400a-aeaa-91e938899edd CLINVAR:975129 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4696f86-8151-4203-a9a4-c2b18a128d24 CLINVAR:975129 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 597efc95-f58d-41f7-bb9d-8081899e0a20 CLINVAR:866642 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5da1ec25-9e09-4330-aa8d-3661c40393f6 CLINVAR:866642 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bddb2b4-c607-49de-b98d-54002a9797b1 CAID:CA2695233285 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 143ca6de-42e3-47e0-8e91-5c94c188adfd CAID:CA2695233285 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24a4d83-5ca5-4959-8d16-8286e5d02d59 CLINVAR:98795 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7ee957e-ec23-4440-9de4-0bb70b3174c0 CLINVAR:98795 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d384a7c7-bf18-45ac-9348-36de29a21ebe CLINVAR:236482 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61059854-d463-4f2a-b20b-acaa656269c6 CLINVAR:236482 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89be9661-3a21-4d3c-b0fc-f6489187d9d0 CLINVAR:987407 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2142c89b-64b1-4309-a755-c5dd99b019bc CLINVAR:987407 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d69d093-837f-41f6-82ca-72253beff901 CAID:CA412742555 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 293e3d7f-e55e-4bef-b438-0d0d455a2739 CAID:CA412742555 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851b6823-71ef-4caf-bbff-7003061c24f5 CLINVAR:2138542 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d7358f3-c4ff-4738-9cab-75bf5851ccc4 CLINVAR:2138542 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d75ee5-e570-43aa-a69c-fee20ff35f06 CAID:CA412741475 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44a43d20-f421-4409-8329-1047e2cfd1b4 CAID:CA412741475 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72fe629e-580e-4d29-9677-f1926335e1e6 CLINVAR:98812 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6bc5c79-0dfa-45b7-8a85-dc88305aaca5 CLINVAR:98812 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609ff0b8-7a90-4c66-97d7-7a102d9fe01e CLINVAR:98816 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59f59df2-35e6-46eb-8970-51f4939fdc5c CLINVAR:98816 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc4b092-c315-4ea4-9eec-0ac6214e7d14 CLINVAR:1297121 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5c47989-3fb8-4cbe-a1be-2e0cda3635b5 CLINVAR:1297121 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f369b4-988c-4eb5-9727-9818f5e55a05 CAID:CA412743099 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f52353e6-6445-4584-b8c3-4db376f0c020 CAID:CA412743099 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc240074-dcda-420b-a158-3253df469445 CAID:CA412737308 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a79e7184-2944-448a-9f26-26e3d277ff79 CAID:CA412737308 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14ee9a9e-629f-44fc-af0d-2be56c1b5325 CLINVAR:98753 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f0701ea-bf86-4feb-a4ba-792c954031c7 CLINVAR:98753 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19dec279-f514-427c-a55b-f38d9f1bba0f CAID:CA412731500 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfd42b85-f571-4586-92ee-c328b14bb37f CAID:CA412731500 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ea10ff-c817-4a2f-bca5-d5dce9291177 CAID:CA412731451 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 466d3242-c367-4c7c-a355-46b80e1b0158 CAID:CA412731451 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d5cef3-465c-41a0-922c-8b7b82ba2bfb CAID:CA412731233 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c382ef76-f6b4-4f8b-abe5-e666360cecc4 CAID:CA412731233 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aed02855-211e-4f44-b819-2f6ec5439fac CLINVAR:866408 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee68a5cb-1af1-49c2-8906-dfaaa70a34c8 CLINVAR:866408 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0faebe88-996e-4333-a2cb-b75890c1ab16 CAID:CA2695202182 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a6122bd-e028-4436-b4be-a8bcad3679cd CAID:CA2695202182 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0a5f9fd-9954-453c-8612-c62b5d1473b2 CAID:CA2695202183 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen faee9c41-78f4-4bce-b653-5fe3d7cd8931 CAID:CA2695202183 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07fb8c2a-7f05-4dff-a7f5-d480752babaf CLINVAR:989392 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eed3cfbe-2501-4a95-99b9-44658071b471 CLINVAR:989392 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aa363d3-c1cb-43a7-9e12-da8209aef1a9 CLINVAR:866191 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b107736-8fee-4359-9900-9ccbcd58f8fb CLINVAR:866191 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23db4c78-fbbd-4923-a9ac-3010f6a1d7e0 CLINVAR:865990 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49abf73c-41ca-4c30-82fd-93b693b38b2e CLINVAR:865990 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5982955d-0327-4a51-878d-bae4668c09cc CLINVAR:2737195 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24690a87-2ea9-4725-9949-026755a014ee CLINVAR:2737195 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aad7bd2-fd55-49b2-8424-abbcdc17418d CAID:CA2695232631 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e828863-85e6-4af8-a0ed-5c1ef504635d CAID:CA2695232631 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a0f010-5c84-4f9c-ac4e-0465d967fa83 CLINVAR:3598278 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66dbb03e-aa91-41bf-b3d2-057ce665c005 CLINVAR:3598278 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07b679b8-13fe-4b89-a346-af5d0fe6e26c CLINVAR:593841 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77e94824-f640-49b6-a287-055921623b76 CLINVAR:593841 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 296c9b11-7390-447f-ae8e-48ce0221d890 CLINVAR:812420 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b68f02a1-c2df-4d34-89ed-6cbdbc94c709 CLINVAR:812420 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b977c940-fd8f-49f5-a013-f40e1164fe33 CLINVAR:9916 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72b48f90-9962-4002-9b37-988ec7370aad CLINVAR:9916 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c90c8c67-bef5-4f3f-b904-cdf53fe3f50d CLINVAR:3249728 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b065e74a-b0d7-4f19-b097-e039b24526c9 CLINVAR:3249728 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e7806f9-f624-48fc-bead-1e9f3bee8fc9 CLINVAR:1802334 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e3694d4-9f16-4fde-9c72-e32baaf1cfd3 CLINVAR:1802334 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4638f85-0cc6-489f-9922-1f74baaa8fdf CLINVAR:866638 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e19f982-fda1-46e3-bab3-d769f0404144 CLINVAR:866638 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 671c954a-51c4-4ea2-9ac8-9a6992d4abd2 CLINVAR:2118600 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a70351a-f1e0-4e44-b688-081c4e3b5f40 CLINVAR:2118600 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b00e590-2c89-4bdb-9355-c9213c2e96c5 CAID:CA412741589 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28e3d821-bdf1-4065-ae23-03f5e78f1f9c CAID:CA412741589 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79790dfe-3518-43f4-9e0d-a4fd534c03e1 CLINVAR:252130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed5e66e8-3632-4b24-89a4-d840e4a2ef4e CLINVAR:252130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55241cdf-e107-484c-a61a-622af25750f6 CLINVAR:252129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50ae81a9-bb5f-4da3-a3cb-479437bef1ba CLINVAR:252129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04ad9211-cd6b-43d1-b30e-99d86c68dcda CLINVAR:628891 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48d1ca39-c53e-4dae-b17a-2efe269b8868 CLINVAR:628891 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d42b6671-c59a-4f82-ab61-4d3bca5e4b67 CLINVAR:1008168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3606a2ea-8618-4383-acb9-aed4b84df23c CLINVAR:1008168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d064ffc-75fa-4213-89b8-25630dde7cca CLINVAR:375827 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91890503-d77b-4649-a1a8-610530072ad7 CLINVAR:375827 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7eabdd9-2cf3-4fbf-9668-d360bf86a75b CLINVAR:810849 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0b01916-c504-43ef-b9f0-73a910d9ea5d CLINVAR:810849 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c35d913f-9332-4f71-af30-5bbbb4c1a827 CLINVAR:441225 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4ac995a-5b38-48e9-bd9d-73c3b2dff997 CLINVAR:441225 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 700cd7bf-a48d-44f9-852f-0247e2cd1f05 CLINVAR:251762 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 826f0652-9b0e-461e-8deb-00c5492e1243 CLINVAR:251762 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c9c067c-a284-41aa-b087-e1b2a5512cef CLINVAR:575372 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39a11469-0ac9-4eaf-8a4d-d6481ac149a8 CLINVAR:575372 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40bea998-79de-4479-8ac4-facf40ada90a CLINVAR:252035 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c872e60-bba1-488d-b518-31092657cf95 CLINVAR:252035 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 604c98d4-667f-4847-a737-a99b3cc49c56 CLINVAR:251725 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10326b54-a6da-4711-b053-d4c7d59268f0 CLINVAR:251725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cd8eed8-119d-4c45-9034-333bba15cdab CLINVAR:923326 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 383ebbcf-fbcf-48e3-b71b-ec0ccad0facb CLINVAR:923326 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82018da3-a531-4e0b-a569-7a434c1208b0 CLINVAR:925475 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f04a179-fe13-4b3d-871e-af55095cc41c CLINVAR:925475 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d181246-7eca-43d8-9c4d-4ccfa35846ec CLINVAR:251047 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43d7045f-bf66-41e5-9698-b08faa6126ac CLINVAR:251047 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8f2d381-361a-4d32-b239-d9253187ef3d CLINVAR:252111 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f7a4d50-082d-408a-b8c5-92137904d005 CLINVAR:252111 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 496915ff-74cb-421f-8d0c-35bedb0c4da7 CLINVAR:252225 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3e8d2f8-bcb1-4cd8-bc13-aee9409881c2 CLINVAR:252225 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c8eb43a-ab6c-4bf0-94f5-c249f4c90536 CLINVAR:183116 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18144284-c3ae-43b9-ae20-47a88288847b CLINVAR:183116 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6635592-0295-4498-abc6-30856405cd0e CAID:CA355946316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cab65f3-88b5-4705-92b8-bf500cf06d1d CAID:CA355946316 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea383218-b751-4229-905c-ec79d8fc44a2 CLINVAR:554590 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c219e2a-3656-4e5d-9d31-f5eb541ca001 CLINVAR:554590 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc1b7764-abf7-461e-b5be-7e58eb01b8b9 CLINVAR:1683230 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 910018d0-7b3c-41f5-8176-c13affa1445a CLINVAR:1683230 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5bff787-6eb5-4363-9494-651ef5ea4998 CAID:CA355961295 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19e4513b-334c-49e2-b33a-bed1dc013ef9 CAID:CA355961295 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd91c61b-d9c6-4d5a-bcc5-f9259c1cc43b CLINVAR:638076 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c1de4f5-5a43-46f3-a49a-eae951a28ec7 CLINVAR:638076 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fd27c36-6818-40e0-84c3-fc08d6ebb5f0 CLINVAR:284864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a775bae-e1ec-4b59-a5f6-531215124c6e CLINVAR:284864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b529672b-e8aa-45ba-b748-89c1a9d13125 CLINVAR:657307 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66fd85be-781a-4dde-bc1f-92082dd1a1a8 CLINVAR:657307 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9689cebb-6201-4610-978a-d39b251e2d6b CLINVAR:1322965 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71333470-f2cf-4361-9d25-65a827533ccc CLINVAR:1322965 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cc0eb7e-23f0-4780-8f32-402f26b36774 CAID:CA401370634 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1aa2980-30ea-42e5-9e99-5156a9c855e3 CAID:CA401370634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73de57ce-69d0-4087-8cc7-95ef28b8b2e0 CLINVAR:2675756 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e21da552-2dbf-4542-ae34-382bee095989 CLINVAR:2675756 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c86847e-8336-464d-bc50-18b29a2ac2ed CLINVAR:552776 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7eeb762b-ecd2-4447-aedb-213bb5c2ed41 CLINVAR:552776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53b148a-9716-42a1-b9d3-ebebcd6b34bd CLINVAR:555277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb5e67b6-3d1e-431f-a885-f0aef83db99f CLINVAR:555277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f110d719-dd80-4fe5-a023-eeef11b05db9 CLINVAR:843318 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 990ea9c9-25a8-4992-9306-5fc8442a2495 CLINVAR:843318 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e53fa867-06ff-4fc6-be9b-a5f92920bda2 CLINVAR:597382 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f44e7fa4-7d27-4652-a392-51e6b222c628 CLINVAR:597382 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3058c17-4e21-4868-a7b3-1b2f0499ce6d CLINVAR:98983 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39866c66-358f-4a25-9b89-d3e7678719d1 CLINVAR:98983 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f47331-baa0-463d-ae87-36cdda984ade CAID:CA412370587 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0abe66e-bb99-401f-806f-b8e1d4380a7d CAID:CA412370587 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 495eb2f7-acff-4809-b7fe-d12ffcd9e0ee CAID:CA412370595 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6d535e6-f0a8-4b00-b22d-416fefb7f227 CAID:CA412370595 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47b18531-5a8d-456f-ad4e-cf23165051bd CAID:CA412370010 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c027a4b-ea75-48e5-9e89-e08b345c18d7 CAID:CA412370010 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562d8136-00b8-4e6e-8997-2f948cd1f97f CLINVAR:1511265 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f622a5a5-c537-4722-a756-07d0b28a74f3 CLINVAR:1511265 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bfc8037-48b4-4f6d-8b37-35c23e6b16a9 CAID:CA412370011 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffbe59bf-728b-4274-908a-67dcd68c171c CAID:CA412370011 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12572a31-1a27-4bb1-8fc4-76755afbac77 CAID:CA412370012 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9568e4ad-81d1-4596-99b8-a455c2e424f1 CAID:CA412370012 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e7d00e-e424-4435-86f6-f57e807823ed CAID:CA412370008 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21f74af5-1ad0-4b17-82dc-710684764c80 CAID:CA412370008 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f703f7a-0093-406b-af67-bc65db7e5333 CLINVAR:9893 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6cc3ce0-2da9-403b-bf74-0f3ddd31e016 CLINVAR:9893 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0600a44-f12b-4152-800d-8387789029a2 CLINVAR:9896 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9142be9c-3425-4529-a5a3-45e44a56b5bf CLINVAR:9896 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0efadc3d-3980-4430-b8fb-1c27d8f42d8a CAID:CA405687674 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c6693d7-f8a2-4757-954a-d32d4deed102 CAID:CA405687674 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c6ef6b-a1fc-4353-9dfa-c9f6dfdb258a CLINVAR:1705621 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f42477a-a4eb-4629-9bb9-f12ba6b19f12 CLINVAR:1705621 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453d6f64-951d-44b1-9099-1db4b7a038fb CLINVAR:986927 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0539ee72-e001-4282-8d40-619781626f09 CLINVAR:986927 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 294dea32-6648-4817-9ebd-31aa82df5fe6 CLINVAR:224998 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c96f6be-55a2-4c2f-b4e4-acd9d11833db CLINVAR:224998 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc235f7-acb0-43d6-a561-f8ebea13f9e5 CLINVAR:18284 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5484056-9cfa-4663-b966-bad5ce540b73 CLINVAR:18284 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a5092c4-aa28-4732-829f-8e899bd493ae CLINVAR:1409309 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7cf66a8-8cba-4453-81eb-cf051e132011 CLINVAR:1409309 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f17505f-fb40-41bd-8db2-a3935bdea3d0 CLINVAR:1411575 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d05c08b3-5275-4038-a9ce-64422696147d CLINVAR:1411575 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bcd08c2-1918-415f-ae24-b7db06e4046b CLINVAR:836280 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9117c9bd-52e0-4be3-9957-b4ce577d413b CLINVAR:836280 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b97d670-6817-4a8a-814c-da41cb77683a CAID:CA343777356 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09f59de3-000c-45d0-980d-e4a0941c753f CAID:CA343777356 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05b57087-f9ef-4fa5-adf3-d776636dec62 CLINVAR:644952 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 000f5783-3955-4f57-94db-307dec2480a9 CLINVAR:644952 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ad0ef9-bc5f-4bb6-b293-e9f1cecf9761 CLINVAR:98960 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f31cb62-d294-43b6-bd6e-e5aa13fc7ac0 CLINVAR:98960 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a36d867e-eeaf-4165-bdfb-870c02548a78 CLINVAR:98959 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f820b7e-3d5d-479a-9b13-52132ccac60e CLINVAR:98959 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1dace8-6044-4510-9ec8-eb753a2411bd CAID:CA412371856 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9040ac0-3ff3-4c0d-8095-96a8bf7734ef CAID:CA412371856 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1df5b0bc-e708-4fb7-b4ad-811b38305e90 CAID:CA412371854 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef0467af-d752-4680-8ad6-72b9c5cc5ab5 CAID:CA412371854 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827c3ca2-34ed-46c6-9726-090403d37bcd CAID:CA412371862 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fadc923-91ac-485d-9d5e-a6466871c796 CAID:CA412371862 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2944a49d-3391-488f-a3e7-e755c4f8816e CLINVAR:9892 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cb9bb54-2f80-4e77-99fa-5d320ace5002 CLINVAR:9892 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa7236e-6fac-423a-8bd8-993524c5bbc9 CLINVAR:861026 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b02389d-fa4a-4500-a1fc-7c1489267562 CLINVAR:861026 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65c13750-3ae8-4ed7-a0ca-aa5b10cd8cde CAID:CA412376879 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d4aae41-e4bc-4cc8-87ab-32f7dcdad20d CAID:CA412376879 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22f1c3fb-99d0-46c7-86e9-f0b1fc3ce77f CLINVAR:207109 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93d60ba6-2680-43af-aabb-da6cfc944771 CLINVAR:207109 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a72178-efe3-4491-9338-597b3613fb31 CLINVAR:2820766 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68b72bc4-d746-4968-95b2-bce41e7f61b2 CLINVAR:2820766 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28390843-4169-4842-bc19-cd0fbc6b7211 CAID:CA412376875 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be453595-e1cd-493e-ac97-743d19f8a2f2 CAID:CA412376875 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ea2223-3f2c-481f-a9da-563b139aa2b2 CAID:CA412376878 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c4bf74f-3c31-48be-85b2-699d2b318552 CAID:CA412376878 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eee83fc-4c82-40c6-8c0a-07b7463841ad CAID:CA412376876 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 637846dd-0943-4ea8-9782-5de329dda05a CAID:CA412376876 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3df45ec-d37f-4fdc-92fc-fd0cdfc7f1ee CAID:CA412376877 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a19119ae-8fac-4f43-94d9-20df6fb45caa CAID:CA412376877 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692b43cf-06f6-4182-b10e-d4b07f68c5ad CLINVAR:2785684 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69c1eb49-2fd6-4ba6-8ac9-04842eb6b009 CLINVAR:2785684 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6096eeb2-052f-40e1-8358-e617560e64a4 CAID:CA412379033 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2e26595-c861-4f62-bde2-97a371396a52 CAID:CA412379033 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e3493ff-fee6-4b5c-a546-5e06f552e503 CAID:CA412379043 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2c69f66-b948-4e3a-b452-b28b39466d9e CAID:CA412379043 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c2aa26-dacc-46df-8d74-c4078aaf68d6 CAID:CA412379054 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1c8872e-fe34-4b3e-b435-9ae27ca800a8 CAID:CA412379054 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a270e2-2558-49c5-a355-48197b42cca6 CLINVAR:98986 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f31dd51d-b2ba-4e06-940b-06f5c929709e CLINVAR:98986 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ced35d6-1c0f-4c4e-a074-c25cb39236e9 CLINVAR:866919 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9abf13f8-8cff-4309-aa35-bcfbb170b430 CLINVAR:866919 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1acf6ae-fc06-4035-80a5-a5c57f9181cd CLINVAR:4060894 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fe68a04-1676-4bbb-bc61-c425fcd5b974 CLINVAR:4060894 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8afbf81-7d49-4bfa-a8eb-a2a855080d73 CLINVAR:2122675 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1121d95-9e3d-4e97-bf14-3ca36407c6ac CLINVAR:2122675 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3148422c-42d4-41b8-89a1-ed95460f4129 CAID:CA412370385 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb68c164-4345-4283-ace6-0c9f2ab4202f CAID:CA412370385 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f8fac26-3cdd-4c0e-bf26-d0ff76dfc6d8 CLINVAR:98988 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26a8a7e0-73f3-4ea0-a9f0-5616a1ff6f78 CLINVAR:98988 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 665ab0de-3f98-4e00-9514-872eb7f68e88 CLINVAR:1478325 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 930299e1-679c-4864-af55-be456bd9e270 CLINVAR:1478325 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59dbee1d-3c10-4e55-86ee-bcc1910ac9c8 CLINVAR:13328 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49f47e30-a444-44df-a21a-ad8532ef006e CLINVAR:13328 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b38d55b-ed42-40ee-9c74-294c2e5e064f CLINVAR:40563 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26e98a72-0e0f-4fdd-a3ed-8d25f50007b3 CLINVAR:40563 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9c99b46-202d-4a12-9ef6-f8afea56d1e3 CLINVAR:3609795 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 513d93fe-0ade-4328-af84-0421fa2a93f6 CLINVAR:3609795 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7abc2da9-fd72-4140-93d6-0440f2a927ef CAID:CA409103850 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67c01817-02ad-4bf3-bbd4-60d7b403e554 CAID:CA409103850 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a025d86-d2f6-4d81-b41f-b94ceae31d6a CAID:CA409103851 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 602617cc-c99e-4e2a-bb67-0862f97bc5cf CAID:CA409103851 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4399b731-6273-46d9-921a-809f2d2a2c28 CLINVAR:1723210 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6227d69-f96b-47ce-b06f-e972fdc29ae8 CLINVAR:1723210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c20a83f-d2be-4cfe-8cad-28232c6515bd CLINVAR:2580860 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4107b191-b13a-4343-b785-ec4df1c7f1fa CLINVAR:2580860 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edecd9fa-ca4b-4813-be62-321e4ffd78c1 CAID:CA2695203125 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7dcaef70-8bca-423d-846c-51a1cff46947 CAID:CA2695203125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6983747-4ebe-4a92-a7b6-f1802d4553d5 CLINVAR:3768773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62d6f6b8-ce66-4e18-872f-2f197caf83d5 CLINVAR:3768773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6e9e396-0a90-4df9-932a-486a085fc0f5 CLINVAR:2136518 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 780fb45a-825b-47e4-a4a1-28def39d388d CLINVAR:2136518 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f418b64-1c5c-416a-b2a1-08d93acdced3 CLINVAR:2580859 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbbb16b6-9afb-4e03-b2a8-c92e195b6e6b CLINVAR:2580859 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4d6613d-35d8-4901-ad2a-71be536092cd CLINVAR:381599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d688aae-9604-417f-a647-daec2bbf3504 CLINVAR:381599 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1096e6d-bc2d-43d0-b66f-51983d54ff75 CLINVAR:36248 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 897a0e6d-78c1-4d0e-b769-442c7d1a0ada CLINVAR:36248 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe024805-8190-4f8f-9f81-ef2f62664e05 CLINVAR:503699 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fa4dca3-46cd-446f-85d1-5d1f2a8e9ca4 CLINVAR:503699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f4f8086-2a71-4c0a-ba33-a82c6e29ddc0 CLINVAR:496634 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60e49bf1-9533-4dcf-b859-b97644d0acd1 CLINVAR:496634 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170fa209-b668-4460-a459-a4fd90ece4c7 CLINVAR:18039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1498f0b9-be46-46b9-a47c-2ff3915464ee CLINVAR:18039 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b424802-6ef9-4398-ae7d-0e8bdd460b12 CAID:CA343777358 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d559565-d7dd-410f-a18c-53b854282f96 CAID:CA343777358 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a5f2b3d-77c1-4746-a0fd-7ae431fc725d CLINVAR:2736407 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca9fc052-16b0-4d44-82ba-7081fad8357a CLINVAR:2736407 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52074e04-3015-46a8-a46a-15f2767a734f CLINVAR:2152271 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a60195f1-32eb-4dac-9ea4-74fa6903a222 CLINVAR:2152271 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c05d30-d41f-409a-ae06-320a81fb60b7 CLINVAR:870937 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4f27795-9221-4039-bcad-e10298b9bc56 CLINVAR:870937 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54f71ba-c345-478b-89c3-de807e17fcbb CLINVAR:99798 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46fd0b83-4cef-42b6-86a7-1001023df572 CLINVAR:99798 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de35ead5-e8a2-4ce8-bb34-cab6d3f60cce CLINVAR:635995 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32918982-749d-48fd-8411-2669e9ae1236 CLINVAR:635995 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8da73955-e60c-46bb-89f9-f4108ad91f04 CLINVAR:5565 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 982aaf74-dc20-4480-8876-7742bcec1acf CLINVAR:5565 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb1d290-d1f0-40a2-9e3e-abdd121e7b57 CLINVAR:99804 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38188847-74f9-4c8a-b9ae-74a00589239d CLINVAR:99804 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ce4beb6-34d1-4317-ac00-fc145d4abc38 CLINVAR:5566 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3a7d762-cf2d-442d-a7c0-c76811a8e69c CLINVAR:5566 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa64d76f-3cda-4baa-81fc-6eee4b70cb0c CLINVAR:65711 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87418a42-de7a-4a61-8f9c-8995ca17759b CLINVAR:65711 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90026765-5059-4ce6-8499-882c39aefe77 CLINVAR:574505 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62f4549c-d105-42bf-a6ff-5bdd7b0e54b0 CLINVAR:574505 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 929d2365-0b96-4e79-8110-8f5ac28f91f3 CLINVAR:1451640 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81c48adb-dd78-4bc6-8509-70e5bc8b7191 CLINVAR:1451640 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afe9ad62-e2c2-4681-86d3-4980d1b21fff CLINVAR:813151 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 502f5393-76a2-4549-8ce4-353dcd510f57 CLINVAR:813151 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70619b95-3edc-4fbe-8d14-2b2947524f42 CLINVAR:812219 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78858899-d680-4d27-90bd-5d00c4d4ca41 CLINVAR:812219 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26827635-9559-43c9-819b-1fa2466ba89d CLINVAR:5567 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b98e944-d02d-4008-ad84-e8dbac08de1a CLINVAR:5567 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c0cfea-a61b-4902-a884-758337ee1d38 CLINVAR:867104 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 703ce937-75f8-42a4-ab83-cab1c16cdec5 CLINVAR:867104 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e25f01-b8a3-45fe-a683-6abddb593976 CLINVAR:1419404 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8dbabe7a-8288-44ac-b46c-cf45a12d2252 CLINVAR:1419404 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 053872fa-51ac-4a25-99de-19130272af2b CLINVAR:2065408 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d130590a-1c19-449e-bf1f-d26d9e6552b9 CLINVAR:2065408 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 034b20a9-3024-424a-b1a8-54985c1d9705 CAID:CA397397299 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25b5dc38-fed5-445e-8cfb-4b1ba3dc2f63 CAID:CA397397299 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da0bae26-ff65-40a1-b9b9-eb26df3fd887 CLINVAR:324623 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37875390-0082-49c2-b76f-964b5a2c4613 CLINVAR:324623 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6842a6ef-2fe2-410d-8ea3-6cab4f8788d3 CLINVAR:377207 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14871464-ab79-4354-9f3f-e718135c1504 CLINVAR:377207 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dc1ce74-569d-4ac1-81c1-c7dbe31aedea CLINVAR:1364499 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 555941ff-5527-4c23-a335-3e1d8a76163a CLINVAR:1364499 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fb45ad3-a5d0-45ff-a587-a10b037533ee CLINVAR:388828 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b45647e0-8d47-43a1-8054-08e92a6abafe CLINVAR:388828 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34d31481-b5c3-40ee-a572-89307f456b25 CLINVAR:99790 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bcf95d7-e7a6-483c-ab8a-766bd9e88117 CLINVAR:99790 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c5c2e4e-8e65-45c5-84fd-50c749f48c50 CLINVAR:1385342 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ba86fa5-e62c-4102-b156-0aa6a0012fb6 CLINVAR:1385342 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dd95f24-9fb6-4a7f-b92a-a658ee8c5d17 CLINVAR:2754882 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d916159-6a66-46ca-ace4-2b35eb5025d6 CLINVAR:2754882 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e88463c3-739d-472d-8ab4-f3e6c6715ca5 CLINVAR:1486676 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen becc8545-97e2-4323-9c6d-71e2b8e248fa CLINVAR:1486676 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2429f52d-2a18-480a-8410-08892e0dc1d5 CLINVAR:2178827 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bae295ef-af49-472e-98f2-266944fcb8f1 CLINVAR:2178827 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f98a37-0988-4b09-b04b-18a64f5873ab CLINVAR:800208 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c303c7dc-25d0-4143-b13c-a03972322bb1 CLINVAR:800208 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 169fb0bd-df3f-4017-8698-5fdac27323fc CLINVAR:1400984 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a508e9c6-1ac3-40e9-945a-07002ff9364a CLINVAR:1400984 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04b07d6e-ea57-49f9-b2ed-cafebe9f48bd CLINVAR:844508 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ee487aa-11d1-4c7d-8d05-ffa7a49d2858 CLINVAR:844508 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b53a75-9a78-4df1-bf74-21de1fa60b25 CLINVAR:3513086 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88484686-c3a4-48f0-9d20-719148a698de CLINVAR:3513086 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea7e5a46-37b3-426f-8872-61733197ee4b CLINVAR:953315 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4533924-6290-420d-a48b-ab6a6b4c933c CLINVAR:953315 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d7b552-9d2e-45ef-a356-2380577253d5 CLINVAR:2973015 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a43f12d0-4590-4a1c-bd52-61e9d4f28fdc CLINVAR:2973015 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d710124d-a3aa-4a57-a585-0b19ec2f72e4 CLINVAR:2736405 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b46bbd21-8e0e-4366-b01f-031ade9eccb5 CLINVAR:2736405 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 534fbed7-4472-418d-9926-19a57b93fc5b CLINVAR:65709 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd9b9a6b-800c-4d84-978e-80441b103be0 CLINVAR:65709 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fab540f-6722-4362-9641-342cb3253a7b CAID:CA2576142335 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49a74bd2-205f-4d68-81bf-38023fe0f70a CAID:CA2576142335 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 206520ed-f296-4ad6-b71b-94e523aad14b CAID:CA645590904 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d40ff746-4c10-45a5-961a-ce6bc23827e1 CAID:CA645590904 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec543f8-5356-4662-833d-0b65f57d88cb CLINVAR:916622 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 915ef778-26da-4b8f-98f4-d0efb1ca2b0d CLINVAR:916622 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfc08f8d-7459-4eed-a9f2-15bf7b21b8fa CLINVAR:636136 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da474386-6171-4ef4-b475-6155ea49a7a5 CLINVAR:636136 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b909539-23f7-4bb7-a0aa-7c94f8c40910 CAID:CA397397658 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d04b6a05-1e55-4954-ba91-24349634e27b CAID:CA397397658 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa040dd0-c4cf-4ee2-b8ae-080cebd8b3fc CAID:CA397397285 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a91b303-7e22-4116-8c83-83e9cf1258b0 CAID:CA397397285 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41d6cee-dd1c-4567-b531-d59316b74c3c CLINVAR:496681 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 349938ba-550a-42ae-9332-b739101be38b CLINVAR:496681 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3830e7f6-cbb0-4782-b902-31808a008364 CLINVAR:156598 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89a8f896-ed83-4030-a0a8-f3d13cbce943 CLINVAR:156598 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b1feb6e-9a4c-4d68-84a2-4e37f5b88d41 CLINVAR:1700386 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30d8c87a-4755-4188-90e2-c8aedff2a278 CLINVAR:1700386 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1094bbe3-4b25-4733-8ec4-3bea715bdfb0 CLINVAR:803716 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f403d66-ca6d-4562-b962-911d99fbb069 CLINVAR:803716 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6e7a51d-720d-4141-8b82-a0dc0e06b841 CLINVAR:2105592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a352257-12f0-43bc-90be-6343213ec390 CLINVAR:2105592 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ded38c-3ab9-4ef2-9508-b78395ea54a0 CLINVAR:189549 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84a89a88-9fae-4767-bcdf-743d5b1b7760 CLINVAR:189549 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a6b628-ff7b-4532-96fc-1a17a4c4fe62 CLINVAR:211032 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 550f2fd4-847f-4428-a765-f34b8878fe9a CLINVAR:211032 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81390378-33ac-46af-9da0-13cc6cf83a57 CLINVAR:1109435 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7a89454-39a2-47be-9001-be78a883641a CLINVAR:1109435 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d843f095-2f2a-414e-a1bd-97ecd9e44f03 CLINVAR:1489310 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a87935e-47ef-4370-9492-6efb8625067b CLINVAR:1489310 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab2c6f9-1cb4-41e7-b3d6-63e43034e2b3 CLINVAR:692624 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa03728a-39ef-4186-859a-fbea373d75ba CLINVAR:692624 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa306d6-31b2-4dd5-be67-71a824e1ab14 CLINVAR:692657 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 030d76b7-0424-441a-9013-087a81885f1e CLINVAR:692657 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7277d6d6-c2f7-4686-bd12-7ad3261417ab CLINVAR:690197 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a296bd9-3944-4139-b10a-35b0dfbc89c6 CLINVAR:690197 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f86ba41-7758-45b4-a931-68ab0cf90c88 CLINVAR:690178 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4f549a5-6190-46df-9a10-f66ac00e622c CLINVAR:690178 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a058f0f3-9f94-4482-be18-f8d420be64bd CLINVAR:693064 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c0196c8-cc8b-49e1-bd56-f65231370d00 CLINVAR:693064 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0794e23-6cf0-47cc-ad1a-5f54a265dd3f CLINVAR:693105 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d32415f-73af-4ac9-b52c-3e39f2815e9a CLINVAR:693105 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 684013f2-478c-428b-a8ac-d408b7fd670a CLINVAR:267298 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bab775dd-9dc0-48e5-8b57-d488e7f70d07 CLINVAR:267298 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d153f6-7fad-4626-a80a-5af4326d5edc CLINVAR:9602 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e2e2118-e7dd-4c8e-9f03-f432f982e93e CLINVAR:9602 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75643e0f-9c02-4285-b174-e336e49ac79e CLINVAR:474894 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2da8c827-84e4-4a47-b034-c40e8e4cb37f CLINVAR:474894 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19e80b6d-90c6-45e9-8d1e-01de78b6d855 CLINVAR:92292 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea954866-96bc-43f8-986d-36d26526368f CLINVAR:92292 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38fc67ec-f213-4d5f-869b-7a3f4234bbc5 CLINVAR:425918 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 361bcf51-2d39-4ec6-b4b6-3bdd4fb65910 CLINVAR:425918 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 063fcd87-dbe7-41ea-bc61-4929e961d6da CLINVAR:425780 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8276985-9948-401c-b60c-2ce0fc63ca4e CLINVAR:425780 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e30cba5c-0bee-4959-9431-c304b5c0612b CAID:CA412376034 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb793adb-3865-4c76-94ff-068f21baf6e7 CAID:CA412376034 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6566294-6a29-4085-b5f3-afddc8bc7042 CLINVAR:98908 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f78e28e2-ce8d-40d5-b79d-0ca8301149b5 CLINVAR:98908 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c4f364e-46b3-49b0-acfa-6c8009e1ccec CLINVAR:425781 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fdda901-3bbc-4672-8bdf-124cb984d8b8 CLINVAR:425781 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a3cb51-ddf9-4baf-9d45-90c124fc038c CAID:CA412376047 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a90e26dc-ebe2-4d65-95a7-67190f643bfd CAID:CA412376047 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 185af6cb-457e-4b49-b22a-4dc9247acb19 CLINVAR:2159556 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff457d80-c388-4c92-9c3e-d76cc58e9109 CLINVAR:2159556 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a91a7b38-f2a0-4a26-bf7c-4f40572c95d0 CAID:CA412376061 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4c976ab-020c-42de-9c41-92eb3f88b0ac CAID:CA412376061 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ff9431-45eb-44ce-8782-e787e78f9a44 CLINVAR:1700721 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57969af6-a9e0-40de-b05a-d03391f85b64 CLINVAR:1700721 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec3b9ade-dcb9-4ace-b285-823344043ad2 CLINVAR:99015 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 757b1c79-55dd-4161-aa3d-8c856b2288bc CLINVAR:99015 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30bd4d55-9435-43d8-9a85-146b034aa24e CLINVAR:99016 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f25510a-906f-4e0b-929d-7bd8b0da0bc1 CLINVAR:99016 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02eeca4f-0b35-4fad-92a1-d6f3e31b870a CLINVAR:98938 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cf5b6d6-7076-4429-a9a3-954cbc38746f CLINVAR:98938 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b9fdb2d-3d0b-4e7f-8a0a-3dbd0ebf4255 CAID:CA412740096 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c27ed0b-d3d7-4586-a067-cda35b79fd65 CAID:CA412740096 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a58abda-83e7-484c-bd08-d533e229302a CAID:CA412740071 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7e0af2d-4f14-45e8-8d48-66991f819c27 CAID:CA412740071 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5504dec-b3f3-494e-9b33-7a31d39d8f8d CAID:CA2695232679 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 303d4a6b-4102-45e6-88c7-7ea6fcc430d6 CAID:CA2695232679 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b49ad998-d47e-4094-8052-34b4ce9b13a0 CLINVAR:813223 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1069a0cd-261d-4ce4-ac2d-07ab6b3aaf12 CLINVAR:813223 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33610e13-28cf-4935-96c7-8ba95efd6803 CLINVAR:98750 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f78f1908-f1ba-47b1-a360-e5c941c061cf CLINVAR:98750 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46919e3b-6f04-4fda-9f30-9654995f73e5 CLINVAR:98748 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5191c3e9-cb82-4350-a41f-d2cc4541daad CLINVAR:98748 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 352bda26-d9f1-4471-9c40-82720858d279 CLINVAR:996786 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a05aab4-ccf3-4d3e-8582-037b28c2d077 CLINVAR:996786 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b29d83d2-cf51-498c-9532-c32f9bf6533d CLINVAR:427866 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6450558e-725a-46d8-8564-4ef796172706 CLINVAR:427866 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a851ece-0518-49e1-a037-1e9512281158 CAID:CA2693440397 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bf809a5-5dc1-4c74-ac5c-10672d672664 CAID:CA2693440397 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79c18148-1456-4e90-98c5-f0c7aec4ba78 CLINVAR:812416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b79728e2-81fb-4d41-97c1-8f8f7313e2f2 CLINVAR:812416 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70468bb7-2f78-4c66-961d-02ea9c2af846 CLINVAR:2430213 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15bed948-3605-4027-9395-b1593da079db CLINVAR:2430213 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abeb84fa-c1e0-449c-b7e2-1cfb61823807 CLINVAR:3249416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3189167-6c6e-4c6b-acdd-dc6608b3ac2f CLINVAR:3249416 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4ff649-b5d5-4645-9956-dadd3b288a54 CLINVAR:813232 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1955def9-8443-4d16-8092-047cdd9ab61d CLINVAR:813232 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f09a9f00-1a6a-4e69-a94d-63be97e97d00 CLINVAR:636102 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac279e3d-250d-44bf-9268-c207408e4e44 CLINVAR:636102 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a88b4699-0f4d-4d19-ae4e-e542843e3e29 CLINVAR:1993965 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ba70184-e297-4c3a-ace0-0d6420405807 CLINVAR:1993965 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b05c054-1a1d-453f-a7de-c6f7e1f67b2f CLINVAR:438137 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88b1fd65-d486-4f99-992c-5c96599f7578 CLINVAR:438137 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd9c246c-6e16-4d11-86ff-308e9ea0d18b CAID:CA412739364 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 910c7eb5-0a80-4f49-b63a-8298b37148e4 CAID:CA412739364 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f0266ff-ff00-4a29-b6a6-ede0ed56fda9 CLINVAR:98739 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fd18247-bed1-47b6-b659-2441076eeeb6 CLINVAR:98739 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba6fa4d-576e-4bde-8668-c7a32840f5df CLINVAR:866558 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48ec0e07-834d-481b-a478-fdc4866992b2 CLINVAR:866558 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c7a8a1-9bd6-4b8e-880d-94616e23d1d2 CLINVAR:98738 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80924e5a-45e4-4d79-8f80-a54fb0ad79f4 CLINVAR:98738 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d840c74-6da1-4d13-8678-cbef91547ca4 CLINVAR:98735 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 834ededc-2c1e-4115-8195-ff966d0e6f13 CLINVAR:98735 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c39fa3-7ffd-4dc4-a1bf-3dd67f194b66 CLINVAR:98736 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f53405bc-369b-46bd-a8d2-d3a0535cbefa CLINVAR:98736 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db28a93b-4574-434d-9af6-7f6bb3c8c77a CLINVAR:872283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b72b7ff-79f6-4b1a-9762-108cc36ff39f CLINVAR:872283 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21292ed5-799f-448f-b62e-d34866aaa812 CLINVAR:98754 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4385f5fd-0f43-465f-b9d0-c83da5900826 CLINVAR:98754 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d5e974-8cf1-42ae-a322-835ef6cb10f3 CLINVAR:1928684 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79577988-f2d8-4057-9f9c-984100b40f17 CLINVAR:1928684 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 309ccb18-54b6-47aa-abed-a348d4344eb4 CAID:CA414891065 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55dc64f1-4438-48d7-b168-0810b65016cb CAID:CA414891065 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c04dff1-2f67-42d6-a60f-7589c714c9d9 CAID:CA414907101 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34c56f79-6c7c-4b86-abfa-603bf3b01419 CAID:CA414907101 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd7c3e2a-455e-43df-9cde-da4e22c47602 CAID:CA414443534 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34cb5777-a31a-40f7-ab8c-22783e316fee CAID:CA414443534 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5af6591-1da9-4d19-bb89-0e8da0d6ad63 CAID:CA414443538 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53be4382-35a2-4af7-aeb2-7c822ce388e0 CAID:CA414443538 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf9d21e-c7a2-438a-8a1e-3de4f3aa3e49 CAID:CA414443541 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 748b85e0-7787-4d87-ad24-078e517ac276 CAID:CA414443541 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aefa7dd-f22d-400d-a42e-af48fcb151d1 CLINVAR:425783 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26cb94fd-e74b-4b45-9d58-fb6dea64fc62 CLINVAR:425783 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a128b3a2-db4c-4cfc-ac77-cba11342504b CLINVAR:431553 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48a472ca-1333-4d56-8757-88dc5b06244e CLINVAR:431553 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6b83ced-6d1b-4de0-a3b0-abf2ddc733ae CLINVAR:251960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 509e6d1c-df7b-48de-9a3f-771317494a79 CLINVAR:251960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed74e742-dfe1-474e-991e-4e5290bddafe CLINVAR:3231953 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37117d99-7988-4a18-b19c-9821359c6a55 CLINVAR:3231953 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d80ec38-8841-4a94-be5e-30ab78e1550f CLINVAR:491662 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cb8de58-2e57-4603-b80e-23901607dbe6 CLINVAR:491662 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f7d09e-56d6-4104-83a7-501ab657e844 CLINVAR:440674 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 301a77d2-2984-4588-a1e7-29c93fd4e464 CLINVAR:440674 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a25f572-1802-452b-83ce-596c9ffcf59d CLINVAR:186005 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68940458-1ed7-4b3d-a4f2-74e6bf02f3a6 CLINVAR:186005 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdd99f7b-5728-40b2-852a-9d4c37be15c2 CLINVAR:3583501 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea13856b-87cb-40ef-b829-15713b6f9c6e CLINVAR:3583501 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb4d2f4-ae42-468d-b0a6-c17cbbb6e7e2 CAID:CA402997146 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91537786-0115-4d9a-891f-51168c0ae712 CAID:CA402997146 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32bd7c86-14b7-44d3-abe6-682b25955a19 CLINVAR:282410 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a9b1225-2134-45f3-af0f-485d2c02d0c9 CLINVAR:282410 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3144a567-d439-44d5-929d-8bb1f0027e69 CLINVAR:557110 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0d93c95-7695-40f6-a822-d7b40c1d4058 CLINVAR:557110 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1da1fff1-0882-48a9-8f95-b5e9f6ffea2d CLINVAR:265488 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf32d48e-c745-428f-a6b3-028d5e21d5a2 CLINVAR:265488 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 308b243b-11d7-401f-a55b-b3a22191b4a3 CLINVAR:551669 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c9c8a23-52d3-4619-bb88-c3aacc962c1e CLINVAR:551669 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e71146-d09e-4e9d-8df7-0a9b19f15645 CLINVAR:551891 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b295f953-d6c8-4b7d-b7a3-45e5a740b5e3 CLINVAR:551891 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88549d51-17e8-4016-b977-c46fe7da53e8 CLINVAR:6666 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ee03779-5422-452c-8e4c-3bd5e1ea58e8 CLINVAR:6666 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56a084e5-37bb-4fa9-b1c0-465baec13fe9 CLINVAR:290198 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3cd5ae5-01fa-45ff-8b9e-aecc9ba5ed6b CLINVAR:290198 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1256d031-ccc8-4928-8197-4d0abd229516 CAID:CA2837995559 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75b84b0e-21fc-4e21-aa6c-ed897b8fce85 CAID:CA2837995559 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ae72a9-94eb-466c-a5d8-ace47af551c6 CLINVAR:285153 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d628fdb7-d5bf-4026-b8fa-3ba545d0b53d CLINVAR:285153 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95f861eb-8d38-4061-b153-86dce9edecb0 CLINVAR:290283 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5083a0bb-7804-4cfb-9ea1-ffaeb297f4dd CLINVAR:290283 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a05712-1673-4f4b-9475-23ebe1ed73ea CLINVAR:217223 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0969e96c-744b-49c6-9406-ef077cdbe06b CLINVAR:217223 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33e1efc2-9fc1-4948-83e6-1b035559c379 CLINVAR:100333 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 772f1bce-b822-4d7a-8642-9813e82d700b CLINVAR:100333 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a4a676-72c4-4f28-965f-884cfbe771f3 CLINVAR:100316 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7aeba4ea-3c8c-41c3-b418-e6227484fc8e CLINVAR:100316 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd59598-cfd8-4600-8908-392719acb9b4 CLINVAR:100340 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4abc59ed-8021-43b9-b6a0-6172e9e092b9 CLINVAR:100340 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c062202-ff6f-4051-a5a5-08ada68c47b7 CLINVAR:100395 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5df8703-fcdc-4c2e-be89-310faec428b6 CLINVAR:100395 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ff803a-9352-41fd-a67e-bcd9d8f043b3 CLINVAR:2504480 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afb87d13-f1c0-45ff-9d32-fa698e135e1c CLINVAR:2504480 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27f2897c-7ba1-4bfa-8a35-91999ffcdbf8 CLINVAR:619741 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cdd3139-4b5c-400d-b046-23b4b9afd7e1 CLINVAR:619741 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfa7bd57-e934-4b4a-a9b0-3cf6c1150251 CLINVAR:100314 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3993a94-1af9-4a1d-b2fe-3602233f1007 CLINVAR:100314 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dab65cc-148a-4167-9d83-333a0d7955e7 CLINVAR:31012 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a226aacd-27b5-4c4e-b773-b50bbf5cbb53 CLINVAR:31012 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c4721d-d58b-4659-8af9-1657dbb41243 CLINVAR:102691 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75f6e74e-51f0-4d6f-88f0-2f2b545b31e2 CLINVAR:102691 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9164019-fadf-4c9c-858a-fdf9d308e7d5 CLINVAR:102690 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdc38337-8f0d-4c32-ae5c-45ce7b6202c6 CLINVAR:102690 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2279fe43-2a55-430f-9d7f-7feb39c68013 CLINVAR:3771197 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57d78142-9be3-4c30-a0ca-de9c049f6e59 CLINVAR:3771197 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0371afc4-b7d1-45bb-8597-0b82fe6e6a6e CLINVAR:102898 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96ab7ab0-1f49-4ad0-9bbe-0514b4eaf0d2 CLINVAR:102898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41bc2622-e170-4dd5-8cd7-22c2774280e4 CAID:CA16020893 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66dba2f2-1e41-4851-8c52-a61cbc68942c CAID:CA16020893 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9851d29-e3b6-4710-a605-54e1b2ba78bc CAID:CA16020753 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b1944ae-5410-4ec3-b951-23227575264c CAID:CA16020753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd3e39f1-f2b9-4b35-ae7f-30e20b37dd3f CLINVAR:4526408 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c519d7a8-1159-43a3-9d5c-118848e4bb2a CLINVAR:4526408 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcbed2c9-9a61-4a95-ad65-4898d8d5d7f1 CLINVAR:1337271 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 804a8a3b-5c31-429e-8b0e-d7e437b98632 CLINVAR:1337271 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e7be8dd-3900-4bae-b3f9-0b3f578ae4a0 CLINVAR:4526409 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 176f069a-69c3-4ef2-abb0-c38edf0b4daa CLINVAR:4526409 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9db54f3-4d48-4b9d-9200-09c3e10b0b14 CLINVAR:4526410 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d34dd01-4852-4a44-9a23-f7eb66f0693e CLINVAR:4526410 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d999cc-c007-4016-bdd6-5eb14cc000ca CLINVAR:4526411 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7b76b95-195f-4974-b681-cafaaf7180b1 CLINVAR:4526411 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e40f6a90-c23e-4086-8e88-f9ed4ae93999 CLINVAR:4526412 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e3c7a40-cc78-47a0-bffc-4e18f16e543b CLINVAR:4526412 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f73fabb-ec41-4834-b7dc-eadd28d2bab1 CLINVAR:4526413 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fd2e2e6-ec67-4ab0-8e43-9e43cd53ace5 CLINVAR:4526413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd70a31-22af-4175-b69e-c5f69d5e5a29 CLINVAR:1299755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a881f7a6-941d-4b39-87e9-2737fe66d9dd CLINVAR:1299755 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6c23cf-f6b7-4990-a9e2-39120a1d8c25 CLINVAR:1184991 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6af096b1-7da9-485b-9e4d-24633381217f CLINVAR:1184991 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9723246-2523-4373-91bc-0553ed6e42c7 CLINVAR:639529 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e623b959-810b-4587-8269-6e8e6fba91ea CLINVAR:639529 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b8e58ae-41a5-4d4c-9ab0-2094db0ab575 CAID:CA2586965986 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a12d1b9-5e26-4f3d-8310-d12ec3cc64c9 CAID:CA2586965986 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 100512e3-115d-41f4-97c1-842db2a0c07a CAID:CA355961124 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94cd2c0d-8261-4217-81f9-0ecf51f689a8 CAID:CA355961124 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1383fa-10ee-4512-90cc-b96f1b0aaca3 CLINVAR:2432701 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aae317ee-0439-407b-a479-410a89fe8dcf CLINVAR:2432701 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92d5cbe5-e206-4426-a49b-5f7663ed1904 CLINVAR:712785 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8b1eb14-2429-48d6-b824-5785c6781647 CLINVAR:712785 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c267f95a-7c70-4744-a5ee-765368282c4e CLINVAR:2169563 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2769831-6c32-49b6-bfa4-e3e6c6163d91 CLINVAR:2169563 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c530bada-45c9-4754-989d-bfe5dd480c78 CLINVAR:422096 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c1e2fb3-c88b-4159-99a4-df7a7935a7fc CLINVAR:422096 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63508f68-0104-4aad-b253-c5835b475b21 CLINVAR:140907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36f905f2-5685-45b7-a803-557a1d3a2653 CLINVAR:140907 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6bd063-3aed-4466-9455-8badfc75e694 CAID:CA2580610837 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dae34e23-0b9a-4cc6-a281-ff0ca173fe92 CAID:CA2580610837 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f9b3e0c-2a34-4522-84c5-226322ca2e42 CAID:CA2695215245 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0424f646-baf8-432e-bc43-f3d05c054e2c CAID:CA2695215245 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b853e72-5c66-478e-a2db-afbcb8721cae CLINVAR:407525 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ae212e0-c481-4836-a562-91b83230fe2a CLINVAR:407525 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8dc9a70-ebc3-4c16-87e8-7c5100058d93 CLINVAR:4281695 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57ff01b9-bf4e-4e6a-b901-66a121e9f7d2 CLINVAR:4281695 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aacd92de-4398-46ac-8dc0-6860ed980bf3 CLINVAR:2780229 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f32286f7-55d1-4512-bfe3-ce3bf7fcd0c6 CLINVAR:2780229 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f141f21-0e81-4ad9-bec2-b9d086bad9ac CLINVAR:220763 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac3f3edc-db6a-402d-b252-9dca3426fc14 CLINVAR:220763 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4956f8eb-d4d8-4e97-9a19-597897891b36 CLINVAR:938483 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b925be9-2cc8-4a74-a371-ecb6024670bc CLINVAR:938483 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7c09de5-28d3-47d2-9611-434081c3083c CLINVAR:2780233 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c3359b3-1159-4666-a389-503fe631c1f9 CLINVAR:2780233 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 161ee0b3-4fa3-44cf-bae4-0a126aaf4f6a CLINVAR:634428 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c94ecca-1c4b-4c26-9c21-8bbe26f1f19e CLINVAR:634428 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91333b1e-8134-4fac-b793-801377c78a13 CLINVAR:254753 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afa436bd-b128-49b1-b36d-303d2a1ff2ee CLINVAR:254753 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d23cb827-3daf-4de0-97c2-09e533cf118d CLINVAR:2734039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen edd50b56-6bd0-4d13-982e-eede04338108 CLINVAR:2734039 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fc90bcd-3138-4723-9620-db03279b39a2 CLINVAR:1066706 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b58f3a90-489e-4e5d-9510-85c0958886bb CLINVAR:1066706 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c8f313f-13fe-4a16-9593-d49baee860ee CLINVAR:1454754 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9491ec45-0e91-4bee-92d2-b46a7abd3a47 CLINVAR:1454754 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d693fe8e-3cef-42ee-b9fb-61700ac73dd5 CLINVAR:120269 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d21d4b7-9a75-41c8-b2da-96ddb62b9ded CLINVAR:120269 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1125dede-45ed-4670-afbd-6da825e69529 CLINVAR:561237 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa4c108d-7e3c-4134-a83e-1e2a17210c32 CLINVAR:561237 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 522bf243-0386-447e-bf90-76fade2d7627 CLINVAR:189996 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a69f6379-73f4-49e3-aa33-0e5bc1a015b9 CLINVAR:189996 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 738cbf15-448d-459a-a5e7-11521f3aa5a8 CLINVAR:646006 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 610f18ba-420f-47ef-a98f-74e20b7624a6 CLINVAR:646006 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c2973fb-8f02-4a23-a0c0-127407949560 CLINVAR:428265 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1e54044-bcae-4712-a80f-2d4ba01b3d3c CLINVAR:428265 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b6a25f-436a-49a9-90e2-73f4cd9c0c65 CLINVAR:1514764 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fce2e64-fa6b-40d7-b390-8f7dd4b7268e CLINVAR:1514764 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c964524-9554-49d7-b90f-e80b5417b854 CLINVAR:985518 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1c7a505-a62f-4bef-a999-9c9e4174ea7e CLINVAR:985518 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cbed83b-d478-4c82-ac0f-9cd86ec0afa9 CLINVAR:978723 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7e8c8ed-6d78-4fc0-bc05-e6a4d1dd0a7d CLINVAR:978723 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7069766c-d55e-41e7-8dc6-c3b7975b523a CLINVAR:155885 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cb38dee-d52d-42b4-b826-5c91a9e37202 CLINVAR:155885 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c73dc1-623c-4eb4-8e26-6f56452cee20 CAID:CA6831693 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecf044dd-0537-471d-9810-842e87aebd28 CAID:CA6831693 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c11eb3c2-32cd-470d-9856-09dc842ebaae CLINVAR:3341140 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4404c5b4-1c03-4b7d-b9e4-044059d9406e CLINVAR:3341140 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1436366f-f407-441a-9149-248518a7a341 CLINVAR:2580863 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68b59447-781f-4cd7-97bf-606b55769616 CLINVAR:2580863 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bef7e2a1-b413-46db-a5c1-b54b108fd1ff CLINVAR:2580855 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fa5a4b6-50a1-4609-9347-a68360724a71 CLINVAR:2580855 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdec5457-798b-4fee-80ad-735bc994ff7c CLINVAR:1405403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b954de7-215b-4cff-98d7-f58430cc4647 CLINVAR:1405403 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e36cfd-c418-4196-9cdf-fbcd5568ec7e CLINVAR:9623 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3625bd8d-d19a-407f-9ae3-c73f5c9c9d81 CLINVAR:9623 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8da28f3-7930-4e9e-a14b-e0544991dd10 CLINVAR:30000 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 696b5853-a716-406b-bdfc-9936acf3daf6 CLINVAR:30000 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2254752f-56b4-40fd-90a5-f1b1d937cd53 CLINVAR:440611 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5770617b-d316-45eb-aa2e-93dccc565573 CLINVAR:440611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7c9292c-b858-43ac-8d3d-d1bf665cc384 CLINVAR:690211 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1daa39f-c0d2-479d-ac44-262e31177880 CLINVAR:690211 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa3fee17-1b83-468b-af02-cca167ca302b CLINVAR:690233 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4725d4e-3021-43a5-8381-a823b133dc2d CLINVAR:690233 biolink:is_sequence_variant_of HGNC:7499 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3da5fa-dd16-4941-84e1-69b47b6ef70f CLINVAR:9614 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edc6ee23-8efb-46fb-951d-b585a2d5fade CLINVAR:9614 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93ee6a87-197d-47c4-a8ca-4194ddf95d7a CLINVAR:9621 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1baa2673-7bb3-4d0d-a5e6-f5dcd24a97be CLINVAR:9621 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6fd3139-a0b5-4393-a88b-1c7df5d78229 CLINVAR:560167 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d665b84-870d-4f78-931a-58eaa0e97f06 CLINVAR:560167 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83816152-5eb6-4eeb-9363-6ccc3a1703e7 CLINVAR:9574 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6172b733-1aad-468b-9582-7dc5d92d945d CLINVAR:9574 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0738bb60-ea58-4a1f-be06-aef886d71304 CLINVAR:9577 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06925b7a-7243-430e-9035-01c9be154ec9 CLINVAR:9577 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79fcf56d-ce47-42df-991d-2cc13764e868 CLINVAR:9585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bde27fa-3a54-4b14-a787-bbf8a24074a1 CLINVAR:9585 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f7ec35-3d78-4992-b29d-215f917f9c8f CLINVAR:690084 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 711e7904-290d-405e-bb73-7f796cbb3ea7 CLINVAR:690084 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a440edda-696a-4300-b28c-73da3367cdf3 CLINVAR:693047 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c922d0b0-a431-4a96-b042-f44b6bf82ccc CLINVAR:693047 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc57548d-7304-457f-a29e-4da030696a98 CLINVAR:418437 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea50b9da-9c6f-465f-9bd8-94032c3d79ac CLINVAR:418437 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84b4df66-3e1c-4963-9ff7-1915db3ced55 CLINVAR:692427 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fa38d01-a513-482d-81f7-c4bd801f8251 CLINVAR:692427 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90db08a7-8ad2-4e23-900d-56c2ed3d1ae2 CLINVAR:2682110 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abe19f7b-3121-4c36-9662-437f74616a71 CLINVAR:2682110 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 128a63e0-c999-4c96-bde2-e7fddd7828e1 CLINVAR:1191879 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc12ac76-60fd-4fc9-842c-a5b2614fd4ba CLINVAR:1191879 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 909d8e76-b510-41b9-a57a-d3b81cf597b8 CLINVAR:689873 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c156c0bd-04dd-4871-b8d3-f75868ae309c CLINVAR:692717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86ab9c08-9741-49a6-867e-f5e88df38401 CLINVAR:692717 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c341f09-005d-4a55-bdd0-1ef0a3317d63 CLINVAR:869395 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bcc525b-04d1-441a-a681-522d711ab67f CLINVAR:869395 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ae6a1b-dac5-4e08-9d3f-56b08c15afb5 CLINVAR:2328709 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 587be00d-3cc4-4acc-8dc1-f2f264e38c7b CLINVAR:2328709 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9becf4ed-2231-444a-9d6d-e0105ba65ca0 CLINVAR:2074473 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e674b9d1-91b7-49c8-ac4f-7a5649747447 CLINVAR:2074473 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f10e9b3-e72b-40c0-928c-f68e6b5956ea CLINVAR:1677264 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc12f90c-0bef-421e-9f58-8bfd468fcd6c CLINVAR:1677264 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 663a3235-12a7-4683-a5cf-958cf0f2c84a CLINVAR:3902269 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9566e105-a2b6-4b1d-93a2-25bff75536e8 CLINVAR:3902269 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15701f83-adbe-4903-8f2f-40d3b1c00731 CAID:CA8314813 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc0f769a-97f7-46a9-befa-a5b27dbea6a0 CAID:CA8314813 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd3b603-3749-49a4-813d-0c525c3eeb6f CAID:CA397319104 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7576a725-e23a-4d74-aff8-0a10d7d507e2 CAID:CA397319104 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd6d6ddc-1544-43ee-9bfd-1c4dd8da8d62 CAID:CA2695224148 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad34e23e-d89f-436c-8258-2b5fe9ae27f4 CAID:CA2695224148 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b5f62c2-855f-467e-879f-4c5de25a7d40 CAID:CA2580610939 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15b9fb7a-1424-4c8c-abcc-4feb66ecef8c CAID:CA2580610939 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f686e5e6-bb5d-4e8d-818d-7e80167ac562 CLINVAR:3251584 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec2822e6-6a04-483e-9940-1006d154ec39 CLINVAR:3251584 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a7e785-c231-478d-93b0-1232dcfac9ad CAID:CA2695224150 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d965b850-9612-477b-a233-f786792980be CAID:CA2695224150 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0a762c3-9700-4e31-90c1-7bfe238fb38d CAID:CA2580610940 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64ac4377-f915-40f8-873f-cac690a89c53 CAID:CA2580610940 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 754cf043-c74b-4c7d-b41a-2494dc3025f7 CAID:CA354447939 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e754f628-4cd3-4cb6-b4a8-85389d286d37 CAID:CA354447939 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e41d6db2-92c6-4807-b7f2-bb601238a544 CLINVAR:1684385 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 118d4851-3f27-42a0-8c9f-56949bedd3ed CLINVAR:1684385 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7a6ef02-ed6c-4d50-ab20-0df6386fc372 CLINVAR:693512 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90cb310b-fbd8-4996-9707-e3c602cd4297 CLINVAR:693512 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bdea5e0-53f1-4632-ab0b-7ad8966b33ec CLINVAR:370052 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 788d0f84-7b3b-4284-b2ea-9d99dee62999 CLINVAR:370052 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b04028e-7a4b-4968-947d-bb845e2c77eb CLINVAR:690112 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69a0c142-24ba-48b0-9078-5f4ec057ac5c CLINVAR:690112 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bc865a6-f391-40cb-a0b6-a9fb4a195996 CLINVAR:290141 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee6ef2eb-4f44-4c7f-bce1-90c4e7719329 CLINVAR:290141 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09aaa8cd-883e-44ec-8504-532d84d4adac CLINVAR:290284 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9db78e7-dc26-483d-a05e-84d7f8e4d9d2 CLINVAR:290284 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1df2a2e5-dda2-4e8c-9f6e-95b99505f1b2 CLINVAR:94269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c2c65a3-5835-4ac2-bbcc-87df9bcb3949 CLINVAR:94269 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f7702f0-fcc7-40d3-98e9-43c44058525f CLINVAR:284254 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67875729-268f-4797-9d60-2ede09d47113 CLINVAR:284254 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba218adb-ed97-46eb-87b3-a4a2a13df1f3 CLINVAR:281062 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ded70ae6-c14f-44d7-bdaf-7c16aa91027d CLINVAR:281062 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 177488e8-f6ca-495d-b363-c90f43ecbcd0 CLINVAR:290309 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f26f713-3335-4dff-a120-d447db869685 CLINVAR:290309 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ad9c680-6418-4e24-92e1-a37bacdaf662 CLINVAR:94367 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 911fe3f8-d92c-4bcc-9ade-843ee0a8f5c8 CLINVAR:94367 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c523134a-7b90-4aa5-b5a8-cb1a6e0c3942 CLINVAR:973317 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0353fa12-b701-432d-8428-3d2b88c2ca21 CLINVAR:973317 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf49cb92-0d53-490f-acef-32d85bf63600 CLINVAR:2758089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f850c196-6f99-4d77-81ac-cccdcc4a348a CLINVAR:2758089 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98327c4-b082-42d0-a5b2-3f0eccffa09e CLINVAR:1444196 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b44ec1a-97c4-4dcb-9200-da1c1b29d7ed CLINVAR:1444196 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f194b81-ced3-4636-88e2-f0e0896a9506 CLINVAR:595306 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41fc45bb-e9be-478d-929b-693f3a3ae59c CLINVAR:595306 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97692e10-610c-40a7-b56b-eab3d6abfba4 CLINVAR:468639 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fe6ae49-e231-4738-b9de-cc143f195d78 CLINVAR:468639 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b877cb80-4429-44c4-96ff-c09a240bf48a CLINVAR:2137655 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccaf3c44-4311-4810-88fd-fd1b1baad8ef CLINVAR:2137655 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a282045a-7082-4d9a-8187-18f8ab350898 CLINVAR:555770 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f606931f-9a85-4b52-923f-61ffac12aa17 CLINVAR:555770 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b236ffe-489b-45fc-8f1f-2b5f567aede0 CAID:CA3050533369 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b95876dd-408a-4dc5-b28e-f6ea8c1f5503 CAID:CA3050533369 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2689254f-c9d1-47e3-b768-95da2843df92 CLINVAR:963357 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4ae0e3c-5a3b-4077-9563-92cdced96aa8 CLINVAR:963357 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 734c855f-413c-4554-aa35-5d5d3e85ccd2 CLINVAR:9678 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e576188-b856-4891-800d-44e0ca07045e CLINVAR:9678 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1470d9a8-7a37-4fb8-be61-d45bfbd9ea77 CLINVAR:422744 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed4f7dee-b94c-4991-832d-2f2be5944d13 CLINVAR:422744 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb95a6ae-6bf0-4041-aa4a-53e931b99be0 CLINVAR:2688626 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd605110-4a5c-4ee2-9701-c6e3734ccd07 CLINVAR:2688626 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4833846-f01e-4320-8b77-bb09def1ebac CLINVAR:483466 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21e812ed-31df-4a81-9032-b10eb3d586ad CLINVAR:483466 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed19d378-635e-4ced-b4d5-1c5a36345eac CLINVAR:933019 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9eb2a27-415e-4f4a-82be-2354b02c7521 CLINVAR:933019 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 186d1563-bfdd-4ed9-8626-3029f0198408 CLINVAR:1718629 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b6b5e0f-ff81-426d-ab81-dc18cf7ddb1b CLINVAR:1718629 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae219fac-af3e-4a1b-9c27-ebcac027d60d CLINVAR:543626 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb348f80-e30c-49f3-9997-90dc4a4891bb CLINVAR:543626 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20c1a198-5390-4ac8-b535-4af6a2787fe6 CLINVAR:571148 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 056afc98-72e9-42d9-af5c-776372532e88 CLINVAR:571148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29618b8a-1822-409b-be17-2c6277bd9dca CLINVAR:933054 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d441db34-963f-40a1-90a4-8c8626b9fddb CLINVAR:933054 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 631b455c-37ef-4155-8bf7-4e6420d3b0f6 CLINVAR:485533 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fee0e0cc-f658-473b-ba96-a34b1918ec9d CLINVAR:485533 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cea6123-672e-4891-bd26-e149093c0537 CLINVAR:1055290 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae764cee-a7f1-41e0-add9-a32b019968d7 CLINVAR:1055290 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e4a3943-efb7-4104-ab13-2638896b8fad CLINVAR:412195 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12d69e4f-8dc2-408f-9764-1dee8f7289a4 CLINVAR:412195 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f145908a-830c-4cef-8517-82f5d3806bfa CLINVAR:819257 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72df03e7-2171-4f28-b521-cf3039457ca8 CLINVAR:819257 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c27bbe8b-9205-4089-b1b4-b171ac8c86dd CLINVAR:1057551 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68233db8-11fb-46ba-a0c9-d3b94d326f8e CLINVAR:1057551 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 178c65bb-e8b4-48d7-af75-4bfca155196f CLINVAR:3393370 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99d9902e-7a86-4846-a608-01dd40039fca CLINVAR:3393370 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57292a8f-e219-41f3-a002-ce14bd66e7a4 CLINVAR:45191 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14193730-fbb3-4b16-bcd1-83a9ea983418 CLINVAR:45191 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62ad29ee-8415-4199-a60f-726cc8103f45 CLINVAR:920028 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65953fe8-07ac-4bcc-aaeb-3ce43ffcdd47 CLINVAR:920028 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee40e9b1-7606-4097-b016-b10f6586cff6 CLINVAR:42644 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27a865b1-daba-42f6-a7dc-0c3926603577 CLINVAR:42644 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af99ec55-0137-4e10-9c12-d23620efa93f CLINVAR:42541 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen accab8cc-b527-4d05-8b2f-3856485f4d01 CLINVAR:42541 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 937d5c22-e015-4fdf-a9c3-6c3200f830d7 CLINVAR:42540 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 784ece53-57ac-48ce-bf73-ec97957275e9 CLINVAR:42540 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9dbc87d-044d-4811-a844-31a3283f727c CLINVAR:42744 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f78d3270-236c-4549-8bd5-32dcad7df9b1 CLINVAR:42744 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6fea108-d91a-4e0d-8924-7011fc7be5d0 CLINVAR:42827 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6a7994d-885c-41fe-b93d-7b9f507032c1 CLINVAR:42827 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59de3238-8065-431a-8465-33d6bc7dfb95 CLINVAR:423350 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb0ac269-097d-4513-9c2a-fe481bea76d2 CLINVAR:423350 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c004ce9-cc69-4349-8720-e61b7fff1717 CLINVAR:177824 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fa5ac6b-1e25-4e04-aad3-089cb28c7342 CLINVAR:177824 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68b76a99-4c46-4ab9-9baf-a816b56eb502 CLINVAR:43121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e09c00a0-52f7-4258-a9a5-c03689376ad7 CLINVAR:43121 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ebf989f-1031-4775-87f1-e9f8c200ad66 CLINVAR:31780 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a5c5b28-1150-4160-85b1-c24386d17939 CLINVAR:31780 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb0046a-11f4-4dd3-89f3-ae6dfde118fa CLINVAR:165510 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07c489db-cc8a-492e-994f-d49d615d5fca CLINVAR:165510 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9627e6bf-1c69-49b8-b41f-d3b97b7db8f2 CLINVAR:12424 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f2c7e74-233f-44db-9f26-11f1e8101bd5 CLINVAR:12424 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 304d9f88-4ad4-481e-a5c7-6a17d9997da3 CLINVAR:927565 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34204038-be37-4b80-8d96-1b018b6b81ba CLINVAR:927565 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e214492b-db54-467b-a836-54f43adf2c20 CLINVAR:43628 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8cbec6f4-0524-442c-9820-39707f52054f CLINVAR:43628 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a94b71e-a948-4bd5-9095-ca3422fb2afc CLINVAR:43648 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 277fe591-2efd-4987-bf53-2dd3a2efc34a CLINVAR:43648 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b258405-e408-4e6d-a6bf-17c82dc30b4f CLINVAR:43676 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen def91a47-b370-492d-8e0d-70a758871fda CLINVAR:43676 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d09ee0f-f160-43fd-9236-0ef3e94e8603 CLINVAR:31885 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 882fdaf1-cdb9-48db-9823-976c2e660963 CLINVAR:31885 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adfd807f-1f06-498c-be00-214f4687fcaf CLINVAR:18331 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66fc6f77-7046-4463-ab25-c908b3320cf3 CLINVAR:18331 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b78be6e0-329e-4f6d-99ae-ec579bf217c1 CAID:CA391629069 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a32ca6eb-19e0-40f1-9319-bf3469cc481a CAID:CA391629069 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d295c2cd-c728-4154-befa-edfe0771c60e CAID:CA391629706 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f38c02cb-3d30-44df-968b-dd17668e3ae9 CAID:CA391629706 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48bbbbd6-da2c-45c8-a8a6-fbde5a6cbcc0 CLINVAR:164113 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06054a93-80ed-463d-92be-84986cddd6f6 CLINVAR:164113 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 621f53e3-333b-46a7-aae8-44f84c94cf5d CLINVAR:42537 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 714c68e4-0c91-4e5a-a1be-7d6198235e0a CLINVAR:42537 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53866bcf-0de9-4ae4-80a0-cfa7697dba6e CLINVAR:164114 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3255ee6e-62ae-47f9-96c1-1981f14b3b2e CLINVAR:164114 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf24946-d694-4d04-92c7-cafd066ca605 CLINVAR:164070 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d88d97d6-ec08-4889-b97e-8529e89f1d49 CLINVAR:164070 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 464c6e98-7b70-4c70-857a-139c7b81c3fd CLINVAR:164379 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d81c896-b83c-426d-94a8-c830a06ecf4d CLINVAR:164379 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fae823c0-1134-47ee-a1e8-56c0b4055d6c CLINVAR:177780 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85311dd6-702d-426a-a71a-be28be8d2c50 CLINVAR:177780 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1936ea4d-1272-4890-b73e-f59f16b2eb4f CLINVAR:132976 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bf06645-e1d5-4faf-bf24-248dd58c60b4 CLINVAR:132976 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b34122-3b93-4c3f-b9a9-e50ac4e89819 CLINVAR:43479 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 877a3d12-7fd1-4519-aa17-674cdba25476 CLINVAR:43479 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17418971-cb36-41f4-bc19-1bd11dc79ee5 CLINVAR:43458 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eae38319-3328-41b5-9a9a-29bda44a4ba0 CLINVAR:43458 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db1080b7-47c5-4819-b2b6-e6b2d4539e0e CLINVAR:43124 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df96c4c2-9a93-45e1-98c0-64bb14d2fdf3 CLINVAR:43124 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d5ae24e-771d-4dbe-8a79-90d2a746ce2c CLINVAR:14062 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35b8fe19-2c7b-4ee8-9b42-ec27af0b030d CLINVAR:14062 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8d7254-7e9e-41c8-81ac-8c5aacf0c68b CLINVAR:14063 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a77490b8-e7a5-4fb3-a74c-64ad7233023a CLINVAR:14063 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211981bb-e300-41c6-999a-c284b4678176 CLINVAR:43389 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ca386a4-e13b-4e4c-bb0d-d07c8164a082 CLINVAR:43389 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333b191a-3bfe-4909-9e3d-19f0c85d9cc3 CLINVAR:161396 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30ee465e-c6bd-42af-b758-06bb7a353263 CLINVAR:161396 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a09897d-b241-4172-bea8-820bc6a655ad CLINVAR:43673 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a65c420f-19cf-4f92-88ad-fc645f631b25 CLINVAR:43673 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc83259-abac-42b3-a26f-fd7775b4019b CLINVAR:177636 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12df126d-c4c2-4f72-89ef-fdeb3831d221 CLINVAR:177636 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43d34e33-dde5-41a2-b16e-84027d388438 CLINVAR:3328288 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb4816d8-7662-4bd7-b711-d8e0dc30f6e4 CLINVAR:3328288 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff75b1b-71cc-4192-a1f4-185950a84dc2 CLINVAR:43424 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a7266a5-a947-4ea3-abbe-5f62c9736cff CLINVAR:43424 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a2914b-585c-4b6a-bc82-4a85f0d7cf24 CLINVAR:7888 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee283129-d201-4dd2-b3c1-0bfd076682a4 CLINVAR:7888 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e01cb80d-4c85-41af-b7fb-0c6800ccc5f8 CLINVAR:866421 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 587d2d97-eb76-425c-9808-5f6f2b3b8618 CLINVAR:866421 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35eac148-94a2-4bd8-94df-a25548aa28c6 CLINVAR:99035 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb2199e4-2c37-4d63-8991-3b400df38e64 CLINVAR:99035 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ac9c97-bf9b-478b-bb6d-6ffdaf6ac0f3 CLINVAR:298228 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 791824ca-0d08-44dc-9460-16d87ee383bf CLINVAR:298228 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cad3c75-7439-4b3d-b3c3-9676b56fd82a CLINVAR:99108 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4a4b099-5efa-4b8a-90c9-47d35094ed6e CLINVAR:99108 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7bf26c2-2167-4fbf-ae9d-0496120ab588 CLINVAR:7736 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75534871-fed1-407b-9296-f003b134c85e CLINVAR:7736 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56a97fd6-c01b-4c0c-a681-1c1927bd1ba0 CLINVAR:30224 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 329a9547-ddd6-441e-823d-553c1dd54cef CLINVAR:30224 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54d3b583-459c-4346-9642-e4c0fe2729aa CLINVAR:7737 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f27fe73a-e83a-492c-b500-d28ea3aa577e CLINVAR:7737 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fda2c1a1-d230-46fd-863d-17b1ccbe0cae CLINVAR:3251815 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e891f5ae-f891-4b01-8519-3517aaf84615 CLINVAR:3251815 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d09657-6211-4141-bf74-b60988a9ed6c CAID:CA346329774 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbdd9fad-7c76-4ecb-98fd-8f3a1f973191 CAID:CA346329774 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b12e84e4-f7b8-42f5-8bef-4b48b374cab4 CLINVAR:7730 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9ba520f-ca4f-4242-8b03-b28258f5b9aa CLINVAR:7730 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff6cc488-5954-4bcf-8fb4-68e1323afc79 CLINVAR:2577219 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1f726f8-ad29-47b4-8158-6cfa1c86d2a4 CLINVAR:2577219 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b007450-71c6-4462-b596-b085d25be50e CLINVAR:813356 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfbfbfa5-625f-459a-a89d-c05e2c6bbb40 CLINVAR:813356 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c91ff3e-3ca5-4709-94c1-8fa5a72eb089 CLINVAR:3586583 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c7a7e46-eb74-4d9d-a84d-cd1537cf9214 CLINVAR:3586583 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b85c99e1-70a8-4e05-9e37-224e8830cd50 CLINVAR:895383 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 965d44ce-6149-4304-b9ab-e2be93f44f8f CLINVAR:895383 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0820f2c8-0aee-4772-aaec-e394246c1691 CLINVAR:1329081 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a916356-bc90-4401-84a7-93c1a137f6c5 CLINVAR:1329081 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36bccbed-e28c-4ffe-939f-72adaa9ab446 CLINVAR:1120045 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abf517a8-6a86-43f5-a15e-fcdbcc8412e9 CLINVAR:1120045 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e9143dd-055a-494a-8d4e-b593bdee2260 CLINVAR:402578 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fd53817-c3c6-4db9-8efc-ab97f1d1ee4f CLINVAR:402578 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2baec30-bb5f-47ed-bd41-acfd12648c75 CLINVAR:1322184 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fbb55e9-72a8-4687-abee-0de919d7fce0 CLINVAR:1322184 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5185907f-40a5-42f0-8347-e19f761e7cbf CLINVAR:523943 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6071fbaf-93b0-4203-aa8e-707efee8d812 CLINVAR:523943 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ec11bb-c683-43e4-b515-ded3c1d903f2 CLINVAR:1338800 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdf3e762-b52c-41c1-8468-0761cee10854 CLINVAR:1338800 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66387f73-eed9-41a0-91bc-374806c69b11 CAID:CA346328519 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c595ef77-b098-41fc-a935-c22833a6d93d CAID:CA346328519 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bfd42df-e2d8-42e0-b266-f88369345e01 CLINVAR:1335387 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdf5d8bb-3f52-4212-82d6-2e29dcb8711f CLINVAR:1335387 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b02c1c-6170-4aa0-b74d-a5a686616682 CLINVAR:68468 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 631de0ee-ab4d-46a5-84e8-36737e91fec7 CLINVAR:68468 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 178a5dee-e1e7-4c5d-a943-2235bf8193af CAID:CA346328326 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 799eee52-f14d-4a5a-bb27-2510a72803ef CAID:CA346328326 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f872b822-f2da-4df0-b62d-b7568142f2be CLINVAR:632362 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b86f4380-18d8-4c1c-9cad-aed7050d5acb CLINVAR:632362 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7aca679-7d3d-4068-80e9-82213938265e CLINVAR:2681127 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad384e30-5c6b-49f6-9d5d-15de232a6295 CLINVAR:2681127 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc43921-f517-4d08-ac47-e78ebc3ad2f2 CAID:CA346327976 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5617f42f-f379-4b99-90b4-e090a4b78b67 CAID:CA346327976 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21c0a400-6cd5-48ed-9b04-9fcb0e5d924e CLINVAR:1339135 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df786d6b-54f7-4894-a7b9-4a3a001f4be7 CLINVAR:1339135 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8a300ff-58d4-4221-89d4-9c13a7460ce6 CLINVAR:1412564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 414aecaf-439e-4ec8-88dd-add870e5a449 CLINVAR:1412564 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cbea539-1845-487e-bbc6-79a827728c6b CLINVAR:282564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e96c7a5-2ea8-4f0a-80bf-5dfabe8b1a8a CLINVAR:282564 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4487e762-48b9-431b-942e-057b528bc8eb CLINVAR:1339668 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fa07c55-8251-4692-8cb6-f2fce7e2d548 CLINVAR:1339668 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4248fce9-da2e-43c8-9632-98b55685c21f CLINVAR:7732 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8eeb1bc-a93a-4937-867d-98568cc41e15 CLINVAR:7732 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0d4ec0b-b0bb-4156-a4d5-e5f6053b1a47 CLINVAR:1489392 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d799942-799a-41cd-b504-acb2c4779e56 CLINVAR:1489392 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7cf6805-57c6-49e5-924a-8cbf8bfdf40e CLINVAR:7739 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edb80d3e-0310-4005-a014-5d65074fc7d0 CLINVAR:7739 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 619aa3fb-d72f-4a70-9e4c-681b3fc87c3c CAID:CA346327851 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c5feddb-f805-4591-a9fd-6266a3859565 CAID:CA346327851 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa459d1-396f-40aa-a4ff-bbdb35f9de4d CLINVAR:7734 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33cebd61-8644-4e1b-bb06-b4cde8b0f1e0 CLINVAR:7734 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d6afa5-1663-4a4d-9b82-72f5494706fa CLINVAR:7735 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51841f92-fc8a-428b-83fc-9d304d10096c CLINVAR:7735 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43d23463-46a8-4117-be7c-d4c4bff531b1 CLINVAR:2203048 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9c73643-5fd0-46b6-a859-46c762299a1e CLINVAR:2203048 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38fb341e-1faf-4458-ae92-41e95fd9734b CLINVAR:335952 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d51ead56-750c-4139-b55b-157048d0b859 CLINVAR:335952 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdb65d41-9a46-4d1a-bbea-165ac5ebb3f1 CLINVAR:592512 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d53691ea-552a-4930-a6f1-370ed1117881 CLINVAR:592512 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d02cd30-2469-4bb7-8d0d-14c8716d6718 CLINVAR:1331361 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19ba9690-e34e-489a-8221-d9b3a2eee8de CLINVAR:1331361 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edcf053b-9038-4c92-8e18-71c4dd6c4bd0 CLINVAR:68466 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c0a5196-71a4-45b8-96ee-1dc905026c61 CLINVAR:68466 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ca41cf2-82f2-4c02-9309-c21d8cb27f12 CLINVAR:1254629 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dec4ec27-11b1-442b-9f6b-5852202def4d CLINVAR:1254629 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea70365-528f-4396-8d53-6b283304a06f CLINVAR:845455 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54b786f0-3972-41f0-8c16-fdaf5b89ec64 CLINVAR:845455 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df2cdff5-f612-4e6f-bc68-bfa8d29c483e CLINVAR:7733 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2eb4ffad-9362-4ebb-b2b5-88af412f395d CLINVAR:7733 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6190e54f-1c55-4b62-8fd8-5a780dd59996 CLINVAR:96699 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54d286e8-1978-44a0-813a-f54ee679e252 CLINVAR:96699 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8adea1aa-aced-44d8-8ca6-6aed165aeaca CAID:CA346327121 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfb4a139-458c-45d5-8f59-4c99050aab95 CAID:CA346327121 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59755222-3636-4f45-8c8d-c6dea21aacaa CLINVAR:813355 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00be992b-3f32-4766-8a71-b684bcb36024 CLINVAR:813355 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a17bf4eb-8701-4308-ae07-d173bc8d74f9 CAID:CA346326874 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9843fd00-3f00-4e38-a8df-f925b5820ea9 CAID:CA346326874 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b385996f-ab15-4b9e-a2e3-e8ed9b21ac3f CAID:CA2580610860 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2dc27c9-e84e-4317-82e1-6d725fa399d3 CAID:CA2580610860 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53c20a6-1c3d-4ced-8ce6-68c0f461db0d CLINVAR:3777763 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adc72d4d-9d69-4f69-9326-c9c983f0e636 CLINVAR:3777763 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0778dbf4-a41e-4bea-a9bf-da380433beff CLINVAR:68682 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89aa70ba-be16-48cb-ad79-55ec189ee974 CLINVAR:68682 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbbe34f8-3a0b-4b90-bad0-fddedcb56cf6 CLINVAR:976230 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b32c39fd-86d9-41da-a838-25edd023f3f0 CLINVAR:976230 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3af8e5b4-3707-4ba2-8642-94d7b9fad5d7 CLINVAR:1339536 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22919bb7-40b2-49d2-9f43-ca182b39bbbc CLINVAR:1339536 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5822bf3-fddf-48b6-b2fa-3694cf736b50 CLINVAR:572507 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4041ca63-c0c4-41d5-9b24-5b42c4afc7bb CLINVAR:572507 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6fd179c-8760-4650-898b-8caf7e860edd CLINVAR:191196 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d67cf9b-e53a-48d5-9df7-59da33bb424a CLINVAR:191196 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90438dfe-50c7-465a-9140-efe16c50b665 CLINVAR:1693469 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe520db8-b470-42a2-96e7-d8ec01c4c517 CLINVAR:1693469 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2d7ef7b-2601-47aa-bea8-5d42d5affbc9 CLINVAR:3251745 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f05b3e5-6731-4e08-99c6-fb67f70f7522 CLINVAR:3251745 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c879050a-6b0d-4011-a9d0-8f161608435f CLINVAR:872164 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 803cb343-8726-44c0-adf5-6065a94147ec CLINVAR:872164 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04462442-ed70-4fc3-b867-97dee531884e CLINVAR:1453759 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46e67fe4-9dd7-4f8f-8baa-661de585c487 CLINVAR:1453759 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8edff0b1-c671-4cc4-9cf3-809b54c5eac1 CLINVAR:68260 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 331aa050-3910-400a-bf0d-daf84e922c9e CLINVAR:68260 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 617bac53-dab7-4dd5-a773-c92d45935856 CLINVAR:555264 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcba5668-9568-4304-947a-ffb6d70973f5 CLINVAR:555264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 522cb555-ce20-4b6b-85a6-fa2ecea81a95 CLINVAR:36386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a779ba76-e31d-49c9-ad28-7d69c0c352a0 CLINVAR:36386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e07874ca-0224-47b9-bf76-ae4f446de7c2 CAID:CA386960044 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a669df9d-f674-4817-9959-19d91c407fd4 CAID:CA386960044 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8567f6f-01ff-4fd1-a1f7-da746fdaa572 CLINVAR:693061 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57a002be-bfa8-47f3-9ebe-2240f8e97c53 CLINVAR:693061 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d739e642-a7b1-476c-a343-dce48b87e495 CLINVAR:417982 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44d97fa4-dbdb-4301-ae8f-d0b49508a059 CLINVAR:417982 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83915fed-7436-4035-a9e9-54bceb39d681 CLINVAR:298229 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20305f88-10c2-4d85-975d-0dad1bd5c95b CLINVAR:298229 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41c4983e-fb98-4690-af63-e1ec8daab48f CLINVAR:932889 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2e64b11-103e-4c4a-aa94-333ed9984287 CLINVAR:932889 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edac5000-d116-4d89-9245-afd47c435861 CLINVAR:761732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15a459d4-83b2-4840-a6fb-bca1afbdeccc CLINVAR:761732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39743adb-ec39-4bbb-8133-7a49f1367aa3 CLINVAR:1481089 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dea98ff-4ec8-47d3-909a-2ad16b1ba45a CLINVAR:1481089 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4ba46e7-5723-42da-9888-919a3299601c CLINVAR:99430 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3f9fa37-9f8d-4f93-a01b-7f53178d359f CLINVAR:99430 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72360cf3-b657-404f-acc2-e363d780c620 CLINVAR:289310 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec179730-8adc-4554-b7d2-0ece5da9ec48 CLINVAR:289310 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93bce380-e774-4730-99f2-71d6a5ffcb96 CLINVAR:99403 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 322ede9f-ae68-4bd7-bb6e-c6efdb2c4c9e CLINVAR:99403 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9313ce6-2e2d-45b9-86b8-6b3140152b7a CLINVAR:21013 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fccd667-d211-4fad-b606-36a937135f90 CLINVAR:21013 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 734a3470-02c8-498b-ac65-67d37bd66be4 CLINVAR:3384229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14775265-9250-4e75-a013-b98d0e9b0372 CLINVAR:3384229 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 185fb4a4-2b21-4456-81c9-2eaa02f348e4 CLINVAR:1337790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a589a66e-089d-447e-b9e4-a9445c0cd3a8 CLINVAR:1337790 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2616dc03-459d-4393-ab09-832599133be7 CAID:CA367401432 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa88f8d6-b6a3-4dea-8f47-997cee0fdef5 CAID:CA367401432 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aca6851-fffe-4f50-bc40-e0df425ebafe CLINVAR:265174 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 625a5fa6-0301-4b7c-9a8a-04fdbd719393 CLINVAR:265174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7efcbb2d-93d1-4f93-9449-02e399d4f38f CAID:CA367401650 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8fdeec9-bd26-43cd-8ea0-a3aaacd92f8b CAID:CA367401650 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e155bff-f700-4c49-91d4-6f1e97dfb63e CAID:CA367400605 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7871b82-369b-4fed-8e50-2987f96b2249 CAID:CA367400605 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ca34530-3b85-41ea-937f-b756b7902591 CLINVAR:2735005 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24e51e0e-84af-4dda-a059-a9a828d3ff63 CLINVAR:2735005 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a87f4fd-077d-470e-b362-9ab6d90369a8 CLINVAR:3720739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7236e00a-e665-48c6-826a-9b994ad118d8 CLINVAR:3720739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb7e3e0-ce65-4f73-a355-c382fa27cd10 CLINVAR:804861 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84ede2fa-d7d3-4ca7-a730-08cf0429eb90 CLINVAR:804861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9744fb8f-7922-40b7-a10a-9ab9f9a0f50b CLINVAR:1700683 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a71355d3-79b5-4eaf-b8f6-0291f1a42aeb CLINVAR:1700683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ecabc2-f0e2-4542-8cff-25d76589b721 CLINVAR:2137411 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aaaeb446-913c-4a93-86f6-6bd31a029326 CLINVAR:2137411 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8786b7a7-ec38-4f1b-93a6-684b55e3088a CLINVAR:2137408 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ddddea3-7153-47ab-bb62-5c2624e4fb5d CLINVAR:2137408 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d133b172-4573-48e5-b946-1a66d409615e CLINVAR:102827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e27eefc-cdf6-4c8d-9167-064bebdb71d6 CLINVAR:102827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a190ec7-8e5d-48f7-9b03-884d85be2c3a CAID:CA16020809 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7dec3f6e-e112-4a6c-86c1-ebb9222236ee CAID:CA16020809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bbfa22c-6283-4b74-9064-e86f95a485d9 CLINVAR:102497 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 650d12be-837b-4872-8d86-e1832cae922a CLINVAR:102497 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e00e0d74-37bc-453c-8526-848f799def59 CLINVAR:102797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 680c1a39-d6d6-427b-8c6d-172acd1dec16 CLINVAR:102797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11155553-067c-4d31-aeb1-6fc077c90c53 CLINVAR:102799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f25f2bb-1a0e-4096-8fb5-719959f1c860 CLINVAR:102799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 134878af-6e82-49f5-a747-83e9ff1dd6ec CLINVAR:102732 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 869211a9-3943-42a0-aa14-7b2b39397118 CLINVAR:102732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6af7bd26-b239-4c3b-b836-245d5eea81b6 CLINVAR:1711524 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 013b52fe-344c-42ce-9276-f1eeff2f47a9 CLINVAR:1711524 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae395670-2d40-484e-8192-f0fbd4a00ae9 CLINVAR:2203245 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a13d94f-1f8b-4fc1-be65-6da184a4d0ca CLINVAR:2203245 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df37a1eb-ca5f-442e-85f9-766f7cc1d65e CLINVAR:623475 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bc7141c-8189-4f79-96bd-c152d02b3e30 CLINVAR:623475 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ddbf260-fa60-40c2-9d97-a333c9e668fc CAID:CA350138800 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09fd818c-b489-49cf-8234-2f95de610e20 CAID:CA350138800 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 478572eb-ddf1-4e3c-b2a6-1984987a1c45 CAID:CA350138732 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 372f70d4-050a-4155-b498-83a26d8d0515 CAID:CA350138732 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91021946-2a51-4ed1-ad0e-e925122fa4ec CAID:CA350138731 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a8ec751-5c23-4c42-a4eb-636257656373 CAID:CA350138731 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce66b26-0973-48bb-94a2-8638600a7d86 CAID:CA350138990 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3a65b43-7951-480c-8a9e-ef1d2644698a CAID:CA350138990 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28ebdda2-c0fa-40a9-84bb-93fead6fac44 CLINVAR:542070 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2d93f8f-5f7d-43b6-a6d7-638255d4554b CLINVAR:542070 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e0fa68a-a0c1-40c1-b779-a35bda841d39 CLINVAR:827701 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 725467f0-19f2-4569-99d1-d84521b43190 CLINVAR:827701 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4652ccc-e359-4f4b-bc05-8ef82dbb60e5 CAID:CA350139018 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b813e07-4264-42d3-95c1-5adfcb65eb76 CAID:CA350139018 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed042d3-45b1-42ab-8967-23fd50a825ff CLINVAR:636389 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 968af9ad-d289-48be-a845-c8f92211e121 CLINVAR:636389 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff83844-8681-4d17-b790-f112c8731c69 CLINVAR:1439020 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdc63e89-c221-4640-a456-a8bc83676207 CLINVAR:1439020 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78766af4-51f7-4608-8812-6d6fa907dd70 CLINVAR:161109 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 993bea91-e9b1-4684-9ea9-5ed8a23106d4 CLINVAR:161109 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ebf2e43-1017-4854-9ddc-4f1eea5a8ec4 CLINVAR:161112 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d736febf-8df3-4ad6-aa25-27e6c14a8bc8 CLINVAR:161112 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ab4dcf-d517-4602-b4af-3485ae512c18 CLINVAR:161110 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0ace704-56fe-4cf3-bb86-24fbf1b9a17f CLINVAR:161110 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02a90d5d-7095-44bd-975a-3bb3c88a2261 CLINVAR:432079 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9c7b91b-b989-4ad9-8901-41648ccd3beb CLINVAR:432079 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 352d84b3-0f99-4930-a324-5dceff4342b1 CLINVAR:945024 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf89ee1b-910a-48d0-91b4-88c79da8252b CLINVAR:945024 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7af0c97-3d0c-4fab-9021-e367cb9b2ab5 CLINVAR:644629 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e909275-01bb-4d9e-8f0f-29716d70c206 CLINVAR:644629 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc0b8808-3f5e-4eae-bfb8-058befa314c1 CAID:CA2573320363 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 644cb6d4-3d26-4eef-bb97-67b3290df61d CAID:CA2573320363 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a27d06-28db-41fa-8171-24ddcc126c36 CAID:CA2573320362 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa9af03b-4fcd-4e3f-81bb-4a13f1d0cf10 CAID:CA2573320362 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 369368a0-2350-4e4f-b873-36170c31060e CLINVAR:304 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5eed4e8f-b78e-40e2-8074-857d9048a3fd CLINVAR:304 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 378780af-747d-440a-85d9-afc2f0dad6b4 CLINVAR:100323 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5aecab3-89ba-4037-afd5-0447c0e7c134 CLINVAR:100323 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04be0396-a6c2-4f1b-a43f-776fcca7faca CLINVAR:551306 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25077358-9f9b-4899-9730-fc74bb4d38d1 CLINVAR:551306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4022a641-409b-4e07-bd28-a66ea2b9cf7b CLINVAR:1322967 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6670aaa3-cd3f-49fb-b746-d0a548fa8877 CLINVAR:1322967 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af4ec9bf-bc6f-4b14-a18b-49d37273e997 CLINVAR:1322949 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0e0e033-7324-48ee-88d9-1471e6369b5e CLINVAR:1322949 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e550b2d5-0099-40cb-9959-71a7af396d65 CLINVAR:972744 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fb891fc-2d9f-4e25-8e12-3889e7484b98 CLINVAR:972744 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9011f87f-833a-4ee2-afa2-be5921823cda CLINVAR:456434 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d8c28d5-8a93-4a5d-ad3c-1d4965ea2f92 CLINVAR:456434 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3ade741-e684-4fe4-aedc-764c29fbda23 CLINVAR:1034639 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d818c77-c672-4b15-ad55-46494f3908c7 CLINVAR:1034639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0921a01-4c46-42a5-bcb7-c125354b4b82 CLINVAR:2506145 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94bdc415-6e99-44a6-8fb9-18536d7cc1d6 CLINVAR:2506145 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 050f9b07-eff5-4673-84b1-491306f42acf CLINVAR:3235260 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d91a77a2-f59d-4a11-9876-0f480840d2e2 CLINVAR:3235260 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb2a0096-e46b-41a9-a723-987d30ca339d CLINVAR:938008 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a1fa0ff-ab90-4961-b903-16c829b6430e CLINVAR:938008 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c435fc31-d512-4ff9-a22e-5150ee2914ad CLINVAR:2138117 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae455910-5746-492a-9f57-df1c829a90b9 CLINVAR:2138117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17252b8f-9886-4ec2-aa42-4f48439981d6 CLINVAR:1972115 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd6e6362-99ba-4767-9104-d6f94ebacc43 CLINVAR:1972115 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef08884-81d8-40e8-bda5-9b64cbbe753f CLINVAR:1945670 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64c4c1cc-a26a-485a-9046-36d94e8d9afb CLINVAR:1945670 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c0ba9ab-f3cf-4f1d-91cc-3b1ff97cf785 CLINVAR:439019 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da5ae3b3-cc5e-4c2d-9e8b-48d9b919c10b CLINVAR:439019 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce656dae-aa4c-464f-b95c-4df9a8de582f CLINVAR:55718 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 416b7dae-34b6-4532-8409-0417c66d3570 CLINVAR:55718 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e28310ac-d7e0-46d8-8ff9-cafbae2147c4 CLINVAR:55415 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 923dec44-b09b-42e3-b156-3d0c9913c4b1 CLINVAR:55415 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d727a7-c14b-4fe0-902d-9014d1b1ce4d CLINVAR:491098 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d793007-7f34-4a14-b5cf-eb14486e8bde CLINVAR:491098 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdf78b09-278c-44be-97fb-8496fa933776 CLINVAR:52568 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9956fe5f-7ec4-46fd-a5f5-c87e5d7c7be0 CLINVAR:52568 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 811f953d-bc6e-4bde-8392-c5e85f7e5ba1 CLINVAR:55573 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27fba66f-8656-407f-82a3-5e986642c3ff CLINVAR:55573 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec3a9888-585c-480c-80c1-8a87fdaa0776 CLINVAR:489785 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83bde7ad-6de3-41ab-ab24-d0a04659c5f8 CLINVAR:489785 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367da534-d94d-41dc-9622-e57951070888 CLINVAR:52400 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 199a31cf-811a-48ef-9b8b-9e8c004f3492 CLINVAR:52400 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fc0fa20-798d-4a26-8d75-4bb16c7c9a26 CLINVAR:55505 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e84b58a-034a-44be-acfc-b8fa85744ae4 CLINVAR:55505 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92bc7942-2143-4947-9582-60ab3dafa707 CLINVAR:55412 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef05f353-2c73-45ec-9a7e-29add336d191 CLINVAR:55412 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a169f78-95d9-48b4-aa83-518204d0ab0e CLINVAR:489784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 497590d5-5bb5-4a96-8722-d825442faa09 CLINVAR:489784 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c5b19c-fb3d-48de-91f4-69e32cb3ec7c CLINVAR:55552 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ad3bb0a-7676-4ec8-a9f5-49d42ea26bef CLINVAR:55552 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c9a05fa-de51-4c58-a566-0f1f7d09ebc6 CLINVAR:91649 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a716cf4f-94ae-49ca-9ec7-44b81e187ec9 CLINVAR:91649 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c04c928-7a11-4d36-8fcc-1a1ea156c674 CLINVAR:232915 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e02a75ca-81ec-45e5-94d8-b703bbfdcbb3 CLINVAR:232915 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17da5389-7a07-47da-a364-20eda412b821 CLINVAR:491071 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b63de59-ecd6-46ed-a886-2fc30540a0cc CLINVAR:491071 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3a31d1-5063-45cb-94b2-64dbb3281baa CLINVAR:418671 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3fa1074-6468-4365-9975-81af673ce668 CLINVAR:418671 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df17c5f2-c68f-4e7a-9b6a-f22990a996db CLINVAR:627968 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6196a663-2887-4fe2-95cf-60bb89bed0eb CLINVAR:627968 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7d61bc6-bce3-4861-8669-8d2b59a1db5c CLINVAR:245973 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b670685-03cb-4475-a90b-97793d37fefe CLINVAR:245973 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee91cbfa-a413-44c6-96d1-b935cdff8130 CLINVAR:409564 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65de0db6-8e6a-4581-85c6-834d62a0158e CLINVAR:409564 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 473fdc1b-36ab-49b8-93da-e50698dba496 CLINVAR:185084 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1669ea6-bfc6-47ee-a00f-ea13d05c3cf2 CLINVAR:185084 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4017d3e9-da1e-4b4c-80dc-0dcbba0ba497 CLINVAR:419217 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc12fba2-15b4-4513-9c14-8da8247f3f36 CLINVAR:419217 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63dec61e-2ec6-4854-a4bb-d9dee4775dd6 CLINVAR:96859 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 483fde65-60d8-4868-9e14-1a5e5b2ab8c9 CLINVAR:96859 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b334d8fa-9409-43ab-b957-1447c5d5bdcb CLINVAR:232537 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 294e3659-f950-4acc-84a1-6b19b1c30edb CLINVAR:232537 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c1e850a-5e0a-4d54-8dc5-dd9d80c69ce1 CLINVAR:52780 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48ae23d9-8492-4e4f-9e5c-4625bdbb39ab CLINVAR:52780 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e2f4c2-c664-436b-a0e6-6a9b3dc2c53a CLINVAR:96944 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a6be274-5d29-48fa-8a52-15fc1f9132d0 CLINVAR:96944 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ae981b-864f-4c9c-b773-1a5a25f9c2fb CLINVAR:1685834 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b6982b0-a3b7-4cce-98dc-f6bbc8ab0eea CLINVAR:1685834 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af4ce35-1e8f-4f84-ad01-54c6b45d1133 CLINVAR:142624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aca3baaa-cc22-49d6-a8b3-dd590ba57f47 CLINVAR:142624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1cca0e-85ed-4b15-8e84-3a86afceaa2d CLINVAR:843641 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f35c37cc-7ca5-47f8-a72c-4664278133bb CLINVAR:843641 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e771437-9a5f-41fd-b31e-3c154c51f12c CLINVAR:188060 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32e83cb8-e4b1-47b5-a270-883839421222 CLINVAR:188060 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d46c89be-6892-4c9f-81ad-a84de84466a2 CLINVAR:376631 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9310b8eb-a79c-4b58-a387-64f0972f647b CLINVAR:376631 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 986994a4-9e81-4ae7-9fe6-e3002dca176d CLINVAR:458520 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3139479-d6bd-4bf5-9630-d92138bead51 CLINVAR:458520 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f7101fe-7a2e-4fed-a229-52a2d46918e5 CLINVAR:2432729 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d30091f9-a375-4be6-ac30-8009af81a25c CLINVAR:2432729 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 940ccb26-5a48-43b0-8b7d-20e575fe3df6 CLINVAR:856299 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54b768d4-1daa-4b7e-a0f7-d6488faf6ca9 CLINVAR:856299 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 557cd0d8-ccee-43c5-8f77-7aabd7e1cd79 CLINVAR:1759844 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 955762a5-11cd-4ca7-a38d-53548162da93 CLINVAR:1759844 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 343093d1-77d8-4abc-ada8-e7b4f6ef9753 CLINVAR:428888 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff90fcac-d2be-40c4-b08a-1b8884c6b126 CLINVAR:428888 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bf32e1-22d5-48ce-8017-fbf355923129 CLINVAR:3147976 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffdc6488-5e63-4812-879c-68b6738ee1fe CLINVAR:3147976 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea5c901-0ae4-4991-98ea-efd43d2d50c1 CLINVAR:492752 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9df1d8a2-57d8-4f94-b89b-db391e242ea2 CLINVAR:492752 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67943c92-9fbc-47e9-9c8c-9cc2e93aa968 CLINVAR:481015 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db7e1256-1917-49d8-9523-3ad06ca4c443 CLINVAR:481015 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65920bf8-dfbb-4c6b-9959-98edf742b099 CLINVAR:376680 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 877916bc-a058-4783-b89c-8b1d1b9ae3eb CLINVAR:376680 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7761fb90-e2de-41d3-a0bd-52aaf3a87887 CLINVAR:216467 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb970f5f-0c97-40b0-9257-37e556097b4c CLINVAR:216467 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b52f66df-274e-4024-ae23-af4e16e6087e CLINVAR:2757236 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8e7a4e1-c2d7-4441-808a-3523e936f762 CLINVAR:2757236 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c207e2-48a6-413d-9999-726866b28ef6 CLINVAR:528248 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd74145f-f8ef-4201-98c5-149832b6d840 CLINVAR:528248 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713f79a4-f034-4121-acb9-d18efbc86a89 CLINVAR:246118 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76289e07-e932-4634-ac85-7550853496a7 CLINVAR:246118 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e53b815-26e5-4ca1-b97d-619397e8fe13 CLINVAR:2697350 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4aa0315-ccf5-467d-b2b2-aaf3d0be1d74 CLINVAR:2697350 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60dd4e16-6f99-4fea-ad35-269d81f32be5 CAID:CA2497028965 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d7aaf7f-9e52-4763-a5ab-1ef1de93fd5f CAID:CA2497028965 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47cc40a7-56d5-40bb-9248-553574c6cf3b CLINVAR:376630 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 559a8a8e-4a59-4c09-865d-1818f31fa579 CLINVAR:376630 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930dcd30-dd86-488f-9581-6c5bb92af628 CLINVAR:10167 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa345eff-45d8-4f4b-9982-c6084d90254d CLINVAR:10167 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17c4c21d-d625-4769-a3de-2fcca87913f8 CLINVAR:3338831 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1174f66-ffc5-4bd7-ad1a-e6aeafcddcc0 CLINVAR:3338831 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3f3ab83-6e9b-4453-bfb5-aa9ffec91666 CAID:CA414919991 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ee71b87-0f43-487e-85bc-2fb2b1ba2591 CAID:CA414919991 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf2a872-b1da-49d3-8746-64d43d58519f CLINVAR:3380944 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 844608df-cb19-4102-8dfa-a4ac07d9a99e CLINVAR:3380944 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 977741e0-dd0a-4aa2-8929-7f26e6805e5a CLINVAR:1458768 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dad17c5e-2e5a-4086-bda3-7acf436cacc4 CLINVAR:1458768 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479b9393-2b22-482d-b311-92a5460a4c93 CAID:CA355945475 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c650ec0-b403-476a-a0de-276c6cd96e9c CAID:CA355945475 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bb75929-e112-4412-aaf4-ee16e32b8645 CLINVAR:2432733 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1dfd94b3-482a-40e8-8af6-6abffee6f010 CLINVAR:2432733 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3582864e-b1a1-4368-a195-d2384a37a4e3 CLINVAR:281005 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a50984df-e801-4aae-9891-c19a451bcdbd CLINVAR:281005 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a17445dd-fbee-4003-8b49-69c6cfa8d0fd CLINVAR:1068474 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c08f3aa-8a6d-43aa-b14f-870b7afa19f0 CLINVAR:1068474 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd093cb9-9da2-4d3f-b00d-2019b4c8671d CLINVAR:1204494 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b28d5df-d4ef-4a81-a2b4-cfd95da788cd CLINVAR:1204494 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c2a71c-23a8-4d0d-aa55-5cf4a5477963 CAID:CA355962280 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88716235-ff06-4eb3-8e41-1ad1f411a6aa CAID:CA355962280 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f190d51a-7b2f-40f9-bb5a-dfc4f4a143c2 CAID:CA355962278 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 987fd4c5-d104-457f-8599-67a5324e167a CAID:CA355962278 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431d7a1b-7065-4141-a518-c72d2f12b143 CLINVAR:198406 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3667bf2-d258-4ffb-8ea8-6e7b3adbc296 CLINVAR:198406 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f72988fb-4df7-4d44-b41d-5ccce2cc0696 CLINVAR:198696 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a0278e8-e397-434b-a9d1-5d1f66e17a46 CLINVAR:198696 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbfb78db-0520-4810-b4ac-11f6bc242974 CLINVAR:565486 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83dcf746-3f98-468d-b3e8-aeb90b990cf4 CLINVAR:565486 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7583246d-fed7-4cd6-a638-d1a50d069dfe CLINVAR:580378 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b6c476e-c370-49c2-99f0-38322d846334 CLINVAR:580378 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 326f4a55-6f55-4df7-8eea-f8fe1a8b883b CLINVAR:632970 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c0e438b-2d29-4bd5-b2ff-a61f69da9536 CLINVAR:632970 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecd811b1-865b-45ff-bff5-2d1deb63b796 CLINVAR:633393 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f0fece8-5dfb-497d-b269-9720f172adb5 CLINVAR:633393 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a12caf5-5e7e-4ae9-922f-0f2d6e44f9d1 CLINVAR:928882 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ada7aec-a0b5-407d-9ea3-052aea04c69e CLINVAR:928882 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dde9faa2-7983-4dc2-980a-8ef26b84ed99 CLINVAR:379208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d17df83-80d4-403c-95fa-dcf6f44d71b4 CLINVAR:379208 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7f3ea3f-124d-4e85-b21c-6938d725807f CLINVAR:4475856 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecdffd34-e428-4ab1-a071-d412cecf6eb2 CLINVAR:4475856 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce669c0a-090c-489e-a097-9012930395dc CAID:CA415256306 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 783cc979-3cb0-4dce-b51b-abfb6bc94bea CAID:CA415256306 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81231c05-fb93-4c8a-818f-294eeb762de9 CLINVAR:281932 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f971928-f071-4f5f-990c-2bd7f7c0cc3e CLINVAR:281932 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b9c57e-5702-4389-8002-95e938fed08b CLINVAR:14221 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e70433b-46cc-41fe-b7f0-20cb505ac688 CLINVAR:14221 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9a23daa-a59b-453e-94ea-ecd4eaf119f6 CLINVAR:660541 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79ff986d-dc1a-4f39-9d20-f13906cd3d56 CLINVAR:660541 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0f79a4-846f-49ad-a78e-4b49dca2e988 CAID:CA405671576 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9cd04550-f1cd-44a2-8711-2d7f73f79a36 CAID:CA405671576 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfcacf89-61a0-4a1c-bfc4-d2b6bb49b765 CLINVAR:487451 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cafd573a-c2ea-4839-a031-a623de5417ea CLINVAR:487451 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f71bce7-47db-4343-b5d4-8e6120b5c2dd CLINVAR:1072425 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5464747c-e880-4adb-883b-7cf864ebf288 CLINVAR:1072425 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55813181-30eb-4a2f-a1a6-deec4859fcc9 CLINVAR:982438 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33f14771-bb46-411c-8791-40d418206bd9 CLINVAR:982438 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be35a867-4691-4c82-8300-5654629f29b1 CLINVAR:575986 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0b8fdb5-7ff8-422a-b1ad-6792fa686385 CLINVAR:575986 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2c5fbd1-d6c2-4cef-97cd-8f01a29bd7ea CLINVAR:133206 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5873c057-3eb4-4865-9de8-cd0b933b9519 CLINVAR:133206 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ff9923-c6f0-4c1d-bd6f-65fe86262d5c CLINVAR:13534 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1641e40d-84d2-484b-8c5b-935d5ca08089 CLINVAR:13534 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a91fbc-9a1c-4475-b9d9-9394d6af2834 CAID:CA402997251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ff87c0e-0dd2-4c63-8cc3-b07b064258c1 CAID:CA402997251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7e779c1-d0ff-4497-ada3-031716534bb0 CLINVAR:801415 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ce6ba79-b716-403a-bd54-d980149a70ac CLINVAR:801415 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 733368df-75c2-47be-8af6-94ed1aff94b0 CAID:CA402995747 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45566419-ef96-4a65-a812-c89821c7d238 CAID:CA402995747 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f17307e2-f266-492d-9a80-bf98384f5ed1 CAID:CA631044777 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10dd7e02-9b1f-4bde-9746-b7824f24eb2a CAID:CA631044777 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab63ca01-52a8-4d75-aae2-554c32d6fb95 CAID:CA402995509 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5926ab6d-e6b9-4c06-918e-54ca5731012b CAID:CA402995509 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0928395b-51cc-4ba8-acf2-1fe2a7257d05 CLINVAR:2503890 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ef5374a-65eb-4ba9-a4de-b7a8a27abfd6 CLINVAR:2503890 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f227aa93-6539-490e-ae50-f4a733898723 CLINVAR:1098275 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64cec702-ab26-48a7-a20b-9b005f0b5e2b CLINVAR:1098275 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33612e77-b6a5-41bd-84b6-d3cca24c234a CLINVAR:1098274 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02f465cc-9e3e-4258-98e8-14f9dfcb1a82 CLINVAR:1098274 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 853fb5ec-a5f8-4063-a096-fd29a2564b12 CAID:CA354447298 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7093506b-d146-4d6b-8cda-f9efaf74d05a CAID:CA354447298 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bd07a6a-5ebb-40ac-9de7-7744752826b1 CAID:CA397313655 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a93ca59-ca1b-4757-9263-c401414178a1 CAID:CA397313655 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1a77a0a-d1e4-4bfa-97b5-c76c30f95c2a CAID:CA2573320224 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cf8ace8-04b5-49ae-951e-bbca2422e054 CAID:CA2573320224 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59c4f6a9-3be6-4951-96fa-1d28eed15f3a CAID:CA397315380 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99d5181f-7d46-404d-b2f7-701cbea8e9ce CAID:CA397315380 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48dc2156-7d38-47ae-aa9e-5bb42f23f2ef CLINVAR:3251816 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b13f9bf-caf4-46c2-8104-5d128cc70e70 CLINVAR:3251816 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a3f2400-a22f-41e3-a642-bbe26c622734 CLINVAR:3582323 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e729a51-bef0-4dd2-9acd-ee7faeee544a CLINVAR:3582323 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d02577-e0a9-4331-beb8-39025bbd0829 CAID:CA397319681 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e6bcd8a-631c-466c-a174-357671b05947 CAID:CA397319681 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37215a61-08e1-4ea9-b6a6-1825ef9aeb8c CAID:CA658820740 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 456d20fc-775c-4a0f-9c83-9ea456c43dc5 CAID:CA658820740 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4c9a189-215e-449a-b39a-31acb386a54f CAID:CA397321949 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b059bfb-e729-4fb8-9f60-d01cd15a135f CAID:CA397321949 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e165249-f8b4-4cfa-a06f-b2354cdaffa2 CLINVAR:2736608 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6662c6e-1b2b-4de2-b614-0450106f7004 CLINVAR:2736608 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70134cda-8e94-41f5-8ce7-bdce150cbed4 CLINVAR:972760 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d6c101d-466a-472f-939f-1004429bd279 CLINVAR:972760 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6512716f-ea51-4dfc-8dba-e0407fad3c06 CLINVAR:662598 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c48c4b2e-014f-412e-942c-f1f42b3ebea7 CLINVAR:662598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4467370e-6011-4e3c-a2fe-6c2a1bdd9ab5 CLINVAR:370998 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b97f54c-50cf-4b52-b99e-caf60d22835a CLINVAR:370998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1fb832a-8b20-409a-a261-f8bb70e8b212 CAID:CA2602634 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 549d7eb9-0230-41a8-b45a-af37e71e7409 CAID:CA2602634 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b693cf-ea9e-4d57-8b1b-6662c209762b CLINVAR:13532 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bf33b75-153e-4d7f-ac8f-63b3c88fea5d CLINVAR:13532 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 329b1bf2-2c22-45a0-a170-17b85eb19768 CLINVAR:522924 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06f0b77f-2039-4b4b-9a96-c55498bc0efd CLINVAR:522924 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 848e8f62-6bb7-4393-bcb3-6e437ada5f96 CLINVAR:523396 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be8c6c05-1cd9-43b1-824b-74411cc56156 CLINVAR:523396 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91dd53db-58d4-43b7-b270-d599c36afa18 CLINVAR:624624 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a76d8405-2afd-400f-8a7b-0ff9e23487c7 CLINVAR:624624 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b193b3b6-85f1-4cce-bfce-aab547a8aecb CLINVAR:691254 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcad089e-2fd9-45e6-a692-aef7cb1a5e48 CLINVAR:691254 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b4c8fe4-2c0d-4529-95b5-87784e797b2f CLINVAR:373333 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be3ec3f2-637c-4c4c-a342-9a80bd079b0f CLINVAR:373333 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6f82b4e-c9f1-408f-b88c-e88c6e1e539e CLINVAR:489373 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e7d107f-d1fe-475e-bc61-b15da8428546 CLINVAR:489373 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12fde5d2-53f9-467e-bcd0-987d76737d29 CLINVAR:1049951 biolink:genetically_associated_with MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cec348b-56f6-40a5-ad63-908bece11a39 CLINVAR:1049951 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce3abf8-3355-49e7-b9b9-927133c42216 CLINVAR:536549 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef1c2d23-fad6-4f90-8ad7-e3ab62278262 CLINVAR:536549 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee5e4c61-6cc2-4d83-9907-9a04adc53f86 CLINVAR:1043063 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b351ad17-cf9b-4d87-8dc2-f77dbea919df CLINVAR:1043063 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3476f46c-a440-42c6-953c-7fc4d9d42a0f CLINVAR:495806 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0be73535-8a46-49f5-bfa4-03f917d528a4 CLINVAR:495806 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9386f3b-fbd1-4aab-9cac-d01e2bbdaa32 CLINVAR:580948 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 726bc040-bd48-4e4e-a96f-e7ee301a0cc6 CLINVAR:580948 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f05c5420-5092-4848-8607-f8f4c95e110c CLINVAR:694617 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c94e23b-8d18-4c92-8257-e709bb2c22b1 CLINVAR:694617 biolink:is_sequence_variant_of HGNC:10586 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea89ddd2-b1b2-45eb-9d0c-bfc3ce529438 CLINVAR:1527893 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cb92f78-40be-4664-bbb1-2f285840b843 CLINVAR:1527893 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b496c83-2d02-4035-a3c3-026362374075 CLINVAR:810877 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49e35474-6f1b-438c-9513-b6e8b93ba870 CLINVAR:810877 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a6896d-53b3-46d5-8eed-802514e4d473 CLINVAR:942974 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23b8b108-52cc-4ded-9bf5-5921736db41d CLINVAR:942974 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 768c965e-a5f3-4222-a285-9e04a8f03fb1 CLINVAR:1036903 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53eb5bbb-223c-4b63-bbda-5df237f270ab CLINVAR:1036903 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f74f447-e446-4487-bd3a-276a15bb26c0 CLINVAR:99375 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ec1c07f-e0dc-46a8-8887-3fd03f2b3bd1 CLINVAR:99375 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a62f3d90-eb92-41eb-9a53-3b38bad36eb0 CLINVAR:4538553 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4677a84-a9d0-4edf-bb08-50c83f9241bf CLINVAR:4538553 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf7b1ae-5f79-4330-8088-bbefc913ffe0 CLINVAR:99450 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88267184-04dd-429f-851a-576edd014f09 CLINVAR:99450 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83e9d482-4845-4139-a377-d81530c40e49 CLINVAR:236109 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 098b2c45-b9d3-4bf1-991d-a614bb30feb5 CLINVAR:236109 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 971fe1b6-e0ec-4a76-975c-4cfc04bb8eba CLINVAR:228954 biolink:associated_with_increased_likelihood_of MONDO:0010860 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6538fbec-9e4e-4d66-b86b-d209f2dbde78 CLINVAR:228954 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6197fea0-e47c-4ca9-9b66-c74ef85b6688 CLINVAR:99087 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19389b88-b78c-4d39-b4ea-7701ece16006 CLINVAR:99087 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0208b846-898f-49c7-96e9-165f01be0fcd CLINVAR:7898 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1810a2cc-f6b7-4bd4-a8f2-606353875beb CLINVAR:7898 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7529149d-a1a9-4eeb-a9d8-9a33ab373386 CAID:CA031062 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5b7c885-ceae-4c12-86c1-daae74fe1003 CAID:CA031062 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c2a320-d9b7-4f2e-9c6f-6ee5c92af626 CLINVAR:236113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 176ca95f-03d6-4a7a-8d9b-1f028ae8c789 CLINVAR:236113 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffde7ca9-5f3b-46e7-b7bd-b4ab463d7ffb CLINVAR:836905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a02923ac-dd17-42a8-8d28-7296f31158bb CLINVAR:836905 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6884a2b2-a70a-47ef-bd18-3dc570d4e633 CLINVAR:99084 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b63ea57-1df0-434e-b3e0-c74da98ed3e6 CLINVAR:99084 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 583e40c0-a116-4720-98e5-2988f36b6510 CLINVAR:871507 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90017fca-62a3-43c6-b977-3cfd7891a8b5 CLINVAR:871507 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 301407a8-90b7-49a0-be61-d5a25f1fae4f CLINVAR:99224 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a8fc2cc-e16c-4fba-a2da-0633d3a84d76 CLINVAR:99224 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 971533bf-73d3-4f3a-828b-bdfdd99a99f1 CLINVAR:7904 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ded0dc2f-a73f-4ee8-9b43-f1ac7576decd CLINVAR:7904 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12913522-291f-4697-b578-d9b600409725 CLINVAR:438100 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75daebcf-0aa6-450d-bfd1-7d441bdb5851 CLINVAR:438100 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04676c77-3b1f-476e-9253-4fb4fa9cae65 CLINVAR:7879 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adb3df27-4c55-47c2-a09a-f400d1cb7223 CLINVAR:7879 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db246cf9-726d-4fc8-8cc2-588863ca8541 CLINVAR:143076 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b31e5682-e7e7-4686-bc36-7c41d2f12444 CLINVAR:143076 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4bfb87d-165d-45df-827d-a86ed92aab02 CLINVAR:99303 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca9444e6-7abf-41ac-9b18-c646a72948b3 CLINVAR:99303 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2437c146-f5ed-4bf4-96dd-c0f7ca10e98e CLINVAR:2585325 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4a25bf7-160a-4a12-9221-db75d73c125f CLINVAR:2585325 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d594090b-a964-4855-af5f-72291c3eee5c CLINVAR:1454986 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b82260d8-0f68-43c6-bfa0-faf4f7b0c700 CLINVAR:1454986 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0feb2165-80f5-4f0c-8b02-5fa27132d46f CLINVAR:236516 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65961135-c387-4a63-a9d0-155ef853d725 CLINVAR:236516 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86594473-66d9-4ea9-9528-fa32e984c8a8 CLINVAR:1440605 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cba33b16-8f2f-4f89-85fc-1dca783f397f CLINVAR:1440605 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c225ba8-ae52-4756-90d0-15275f95219c CLINVAR:812202 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a4f3d1e-a68d-4b9f-b526-2901ebbf445d CLINVAR:812202 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c8ab014-5bbd-4cb7-8616-40890c29c529 CLINVAR:236122 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f27c8bed-d69d-4a6d-903c-9f2c9d880c7e CLINVAR:236122 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be5f14c3-c073-42b4-8fc0-f35ba61d7be4 CLINVAR:866242 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7d301fe-3b83-41b9-aa31-9d537f66973a CLINVAR:866242 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c188b39-748e-4467-91f6-68c4ea78d046 CAID:CA341283237 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10cba01d-f642-46fb-992e-db61b377d9a3 CAID:CA341283237 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71b54416-a326-4535-adc7-e7e41decad5f CLINVAR:1196428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df7afbdc-4ff3-4323-b701-1e0e6555f2e7 CLINVAR:1196428 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4769dc3-35e3-4a7c-a4fc-1fb82de5f95a CLINVAR:99359 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac5eb4a0-f241-4be3-a03a-e3f34cca7af4 CLINVAR:99359 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e9beb44-2178-413c-948e-4e4dc710879c CAID:CA2586966736 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2b320e7-00ce-42b7-9b0e-1987146f8d96 CAID:CA2586966736 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d349b543-e4da-4785-9dd3-0392b720bf2e CLINVAR:822002 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad89de9e-bede-4e98-977b-e377ca50b95f CLINVAR:822002 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 882e103d-db80-4d38-b9b3-53e107b1f4d0 CLINVAR:99135 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05fa5f48-8111-4fbb-bb43-4a2e10cfcf91 CLINVAR:99135 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ecfbb8-5337-4d65-a095-94415cfed3ea CLINVAR:99455 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bcdbfc2-144b-4363-9504-38f93bc27191 CLINVAR:99455 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3657eab7-9230-4dc7-9e9d-acc0179fe34c CAID:CA8365610 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5eaae9c2-6750-4064-9cf0-d12ec2865c5f CAID:CA8365610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 059ebe1d-3bf0-40ad-a5b7-df9eb79e5872 CLINVAR:1372740 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fed79530-bc69-4193-8ec2-10d0424333a2 CLINVAR:1372740 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ab1b143-6522-45e5-823f-0c517d979de7 CAID:CA3249353685 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82625435-dc44-44c0-9691-f9ccb93c45e9 CAID:CA3249353685 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6deefd71-83d9-41ee-9c10-9f5faa36765e CLINVAR:2733942 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c36375dd-01ec-40fc-9a60-23cc8d2eaf89 CLINVAR:2733942 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dde6b66-b649-4b77-a907-5a33353f0b19 CLINVAR:99458 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 791e0a64-05b6-42c0-9b5f-b1bdac58ea5b CLINVAR:99458 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bacdb2a2-055c-4a51-ae78-ffa87a194256 CAID:CA397955377 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6ec83d3-c4e4-400c-9dfb-ec4ef92014ad CAID:CA397955377 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd45e44d-183a-41a2-b6ec-324dfc5c22f3 CAID:CA397946280 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa736dad-3dd4-4422-9b80-e0667cab4f7a CAID:CA397946280 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5767ceec-3107-4825-9fd0-6878fc68f1e4 CLINVAR:298222 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c9b6f02-5843-4b92-8ac1-a9d7887f5b2f CLINVAR:298222 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4fc291d-f388-4595-863d-0e83f414436a CLINVAR:99249 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dced00d3-936a-40ec-8783-fe3a4f39cdfa CLINVAR:99249 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01c349b0-dc62-493d-81fe-5893567cfdae CLINVAR:498001 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c24d0242-30f3-49b5-8b7c-e269566c6d58 CLINVAR:498001 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 243615c5-bd57-4b8e-9327-2a57b4cbfba2 CLINVAR:99338 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 680aeb75-dc1a-41b8-8992-ad56707339f1 CLINVAR:99338 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a2fd1d-efbe-4646-b61c-e772161c1b53 CLINVAR:2678438 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0719c8f-0464-478d-bae0-550406b9c7dc CLINVAR:2678438 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a15a4734-05c4-4b53-8c45-e1c57e171ee5 CLINVAR:3381789 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8fc4f2f-414e-490a-b048-27d79504d558 CLINVAR:3381789 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec64767-9439-4d73-b905-3bdbd2000531 CLINVAR:973960 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07e9c188-f60a-47ba-a7f3-ec94a4b0ea5e CLINVAR:973960 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c77302a-3481-40aa-8f39-88ec838b25f1 CAID:CA409110477 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0dc5b1db-e14f-47a5-9074-2e4d83854633 CAID:CA409110477 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a23353bc-b7b6-4cfb-832e-8d79d5637161 CLINVAR:1338955 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ac21ada-8908-457d-bdec-50a0a36b77bd CLINVAR:1338955 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b29c05b3-f468-484d-997a-c18dd010effd CLINVAR:98861 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 660ab428-3ccc-4184-aa15-1fda8ebd6cc4 CLINVAR:98861 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e9d907e-6fe9-4cdf-88f5-5fe585cdcfb1 CLINVAR:99104 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c398f80-9b2c-4e33-a78c-eb806c23a56b CLINVAR:99104 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4388da4-4d65-4f9e-99bd-7e4e2ccee279 CLINVAR:812208 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec255a96-5313-4ebd-a850-491860bd6456 CLINVAR:812208 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 861e0970-b40b-4093-9b7f-6e9cc9779ea7 CAID:CA341280330 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0abe65b7-232c-4bb2-a78b-f404da6de939 CAID:CA341280330 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c72a1463-0668-4387-9d0f-435ab7fa1b7c CAID:CA645372187 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8cf7e5c-6ed7-4bfc-9940-a9d2f3e99d12 CAID:CA645372187 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86fc6b57-4b61-4f71-84e9-fe6af3f36040 CAID:CA341275107 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ab18e05-1edd-4fc3-84f7-80d59212653e CAID:CA341275107 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0fc385c-2c45-43ce-b5c8-264ab1c075e4 CLINVAR:7900 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb2d7ca7-b132-4250-a6ce-5ef754e7cda5 CLINVAR:7900 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 876dea7e-1a2d-4c4b-8177-1c313d62011a CLINVAR:99217 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bb186bf-cf78-4e09-9717-6456dd466953 CLINVAR:99217 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44b27b08-4647-4b69-a1b0-8e069684f5a8 CLINVAR:7905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25e45b68-d123-41d0-b338-84ed50fa66df CLINVAR:7905 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8836ae2-3662-4d43-b622-19bddd8872ba CLINVAR:99073 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a47b77f-87c4-41fa-af67-e02a1d0e171b CLINVAR:99073 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d984753e-fc53-4783-aafb-c0674e7c3ed1 CLINVAR:99337 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4b1920e-e4c5-4989-98c4-ffc75d91b7a9 CLINVAR:99337 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10d3be25-c0f3-4d5e-b2b7-067477fa69f7 CLINVAR:372290 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfa0e6bd-a308-4c71-ab09-59b55ac0deca CLINVAR:372290 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41281ce6-d3e5-4e78-ac71-04508d06e402 CLINVAR:99113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cc56981-a969-4e30-b779-9762aec25442 CLINVAR:99113 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf68f329-7465-4ee3-884e-10eaba65fa55 CLINVAR:2733921 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9682239b-e902-41bc-9bbd-cf45544e3192 CLINVAR:2733921 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f542af0-1436-4d37-b67a-2e415cfabc9c CLINVAR:280328 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b4b25c5-16cb-41a3-8de4-fb1eaee608a9 CLINVAR:280328 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d48b4d2e-0431-4083-b04b-6f24b896ee12 CLINVAR:99305 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b9eb18d-7038-4326-a0b9-20dba1af7e0f CLINVAR:99305 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf0236c4-7bcb-49d8-878f-952f05622d9c CLINVAR:156596 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52c5c232-0fa5-4ba3-b723-f80d29712378 CLINVAR:156596 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 074b94d4-eefb-4be0-9625-aa513e921917 CLINVAR:2419189 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 545eb9c4-20b8-44eb-9ec6-615430e94917 CLINVAR:2419189 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72b81fc5-1801-4b1d-bf8f-a0ace5e4860e CLINVAR:1879751 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb75258a-d59a-4ef1-8981-6bda208adf97 CLINVAR:1879751 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a1431eb-0351-495c-8ddf-4f98b0c24d8c CLINVAR:2925658 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf8bc46f-286a-4afd-b5b3-027dcc2b1c6c CLINVAR:2925658 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48dec8aa-df6c-425b-b832-8a46d322d58c CLINVAR:1700183 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7e66313-4a3b-4871-b571-5f615b43a442 CLINVAR:1700183 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aaa14bc-8d4d-4a9f-a446-64cef319a563 CLINVAR:99300 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bef3247f-3fc8-46c4-bd42-55089719610c CLINVAR:99300 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba60da78-cf79-44a8-a9b0-4633c78991ea CLINVAR:2733935 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bf38c65-90db-407e-8882-973b7bff33c7 CLINVAR:2733935 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f08261-e742-46f2-a3ec-86ee4b3bd183 CAID:CA341290648 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1537594-83a4-449d-97b8-f7e9f4d556c6 CAID:CA341290648 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247fe48e-c76c-4af4-be9d-ca27a4db504f CLINVAR:99283 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1a59c4b-e30c-4a69-a1a2-ea287b424f03 CLINVAR:99283 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e82f55e-11b9-4f5e-acda-4943585cf368 CLINVAR:99110 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8768927e-ded9-4031-adf9-dfc52ab10916 CLINVAR:99110 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb67847-819e-4535-9d7a-d1c5fdd7e40a CAID:CA645372205 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b93d03e-66f7-4a48-9751-11f76c46a163 CAID:CA645372205 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27637894-40bf-4459-ad53-bb34d8874b83 CLINVAR:1460063 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2387785a-d370-4081-be97-912a10b38783 CLINVAR:1460063 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07c3618e-ce28-4c62-9c77-27f2a66deed3 CLINVAR:99460 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3345007b-8574-4370-b4ab-b9a437183f42 CLINVAR:99460 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8277c9c0-14e6-4425-8752-90d847900268 CLINVAR:618103 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 479e50eb-8b0b-4527-bffe-8e8a97cf3639 CLINVAR:618103 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb89533f-391e-4da7-a38a-800bab99cda0 CLINVAR:1403996 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e48169cf-2989-4363-b756-d77b0d774d4a CLINVAR:1403996 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5465b57-862b-491e-95ca-856baca0880c CLINVAR:2534434 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6c6dd02-d056-4eee-b057-d52b38683a0a CLINVAR:2534434 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f151839-a6d1-4b66-a8be-a9e719cd82f4 CLINVAR:132808 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b27f32ca-729d-42ad-a1c3-bf0476abc3bb CLINVAR:132808 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7cdcd84-ea52-4458-b535-f199a65232a5 CLINVAR:582515 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5be2eec-0d73-43cc-995d-6ba22f361401 CLINVAR:582515 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a656e1ad-139d-450c-902d-67f0957e38a2 CAID:CA338303812 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 506045f7-1a7b-4c41-9762-623f49320d03 CAID:CA338303812 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ba06c9-2143-40af-bb74-adc95ba3d369 CLINVAR:132807 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ab2fd6b-bce7-40ee-952f-bee0743f4c94 CLINVAR:132807 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2cad7cf-b65c-47bf-b3b2-653507f7298d CAID:CA338300169 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0c0528f-9f07-4c91-b966-7d7bfe1967fd CAID:CA338300169 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac09bf39-57f3-4130-8efe-9606ce1aa246 CLINVAR:1457684 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59baafbe-b8a5-4c7e-bece-1654d1f6ca85 CLINVAR:1457684 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f224fb-1ce2-4b14-8165-929700b77619 CLINVAR:1406866 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6f1b648-38d3-4990-8375-b66b6409eee5 CLINVAR:1406866 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab7f01cb-a5c5-4fe7-a8fe-11bd70c1d65f CLINVAR:132806 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 651a8c30-cf57-499d-bf2d-507521913f0d CLINVAR:132806 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96a9e2c6-8fe1-4956-aa5d-dc9f229111a1 CLINVAR:578525 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73aa1370-f292-4615-bc81-e0a91f9af740 CLINVAR:578525 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 672e5653-10c4-42e5-8634-f34cfab72ca8 CLINVAR:871047 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09e992b1-e0b3-4646-bc61-46eefce32ea6 CLINVAR:871047 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7595e21d-bea1-40ff-900e-3f30e6e1a7e9 CLINVAR:1051935 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83dd781f-71c3-4dd2-a1fb-d8acfa6ee396 CLINVAR:1051935 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb7c040-db37-4544-b956-9087ec8a601b CLINVAR:88675 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 502f77ee-12bd-468f-a4c8-ca39a3602142 CLINVAR:88675 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e048d1-d520-4033-9089-e3bdf24f2307 CLINVAR:422410 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8ec55e3-ccc5-4900-9604-3882ed9b37d7 CLINVAR:422410 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f44f2ff-a2a8-4d1c-baa0-eb80e3d4befc CLINVAR:2733822 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54ea1d04-9673-4626-8a63-f189c10f00aa CLINVAR:2733822 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 725c8274-4b91-4002-89a6-61ba543987ac CLINVAR:2703020 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e622162-40c5-4719-b17a-21932f116742 CLINVAR:2703020 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dfd9900-857d-4b29-82db-c6585edb5ca1 CLINVAR:2106910 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec656936-2cf8-452c-9897-e1399d205766 CLINVAR:2106910 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98278365-2c19-4c2f-94a8-b8212a01b9f3 CLINVAR:1409092 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24900c49-21e6-454d-bdfe-a630456fd4c9 CLINVAR:1409092 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c93799-e807-4fd6-ba14-ac9f779080ed CLINVAR:806050 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6f40f96-ba3c-4995-9724-58b259ea48e2 CLINVAR:806050 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da15ab4-f889-4f16-a69e-b0f259f573ad CLINVAR:1331658 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3578b290-8504-446c-92ef-6041669e1ab0 CLINVAR:1331658 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 444eafb5-afd4-4205-bc8b-b2b78ab63286 CLINVAR:636715 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c5de13e-53d9-4726-8f95-654f49566995 CLINVAR:636715 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9076d2ff-92b5-4bd9-9f54-67b8a69d0c58 CLINVAR:1510460 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3b764d3-5956-445f-9240-78b752e8347a CLINVAR:1510460 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45c41ea0-14f4-4c37-bbf6-554b743229b3 CLINVAR:935418 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1199f189-90ef-4b38-a32a-b9ffae9f6e41 CLINVAR:935418 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94052596-e187-4f23-ae05-21b58c57cfe9 CLINVAR:1338106 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c94dd35-115b-4308-a61c-c6e0b1889bbc CLINVAR:1338106 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cce3311-a68f-4092-8427-52ad4708208b CLINVAR:636973 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c9ae02d-b42d-406c-8325-f96d117ca28d CLINVAR:636973 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 320743bf-30f0-4463-9b03-18bc770608d4 CLINVAR:1351534 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fedfcdc-3115-4618-a5ac-486bcb01e721 CLINVAR:1351534 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe794f32-d0de-436c-a035-b3c6165d4e70 CAID:CA338300357 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a45c34b2-bdfc-4f4f-889f-4bdd32cacdee CAID:CA338300357 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8d2fe8-3569-4f2e-9f9b-986672617ded CLINVAR:2580095 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d02cc069-cd92-485a-b552-50d9b900fdba CLINVAR:2580095 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1968b8b-71a4-4339-8f43-9a7e1da1ba15 CLINVAR:2414651 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8312c9f3-e513-4edd-b51c-5b4377a31d9a CLINVAR:2414651 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb7b866a-afb0-41ad-bca6-b5fe5c01c6b3 CLINVAR:942111 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 227d1b85-355a-495d-94b5-bb7056ca1f5e CLINVAR:942111 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e600a04b-7956-4e96-b62f-04e02c6c3e3e CLINVAR:1381345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0524553d-4368-4b77-bcdb-df5841952a1f CLINVAR:1381345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb791db8-3737-4822-b8db-f6588ab4158c CLINVAR:411299 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07f4c2cb-aae3-4069-b575-f678a9c9ce88 CLINVAR:411299 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d69df27c-08d8-45ef-a944-39efe026c0bb CLINVAR:426011 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b19173d2-9374-4338-8827-474a65aeeaf3 CLINVAR:426011 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a2ae814-855c-4a0b-b359-d7fb8d1dc11f CLINVAR:11917 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe6063ec-4ec2-4566-a019-4ea1986e2120 CLINVAR:11917 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 417be758-ae97-47b4-a115-39bb16b27e50 CLINVAR:553227 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 234a2a60-00e9-436d-9e89-bffd2cb502df CLINVAR:553227 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c56e44-0092-4fc2-91f5-49ac6262b391 CLINVAR:1451219 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d3b9c63-1a83-44b8-bf1f-76f04edf1508 CLINVAR:1451219 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1b55b9-07dc-46b2-b75e-539e2c7fd323 CLINVAR:554826 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b17b8f90-a7fb-4e58-9683-d1dd3b90d7b3 CLINVAR:554826 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 003989ac-ed5e-4df6-9652-422602ef0622 CAID:CA355962890 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af3ad9db-cfd9-4245-afe1-ea67b4dd0f4b CAID:CA355962890 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac6014d5-4a35-4946-86b8-89245700f0a9 CLINVAR:558027 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2275d6c-6aa9-43a7-9e0f-9f739f614086 CLINVAR:558027 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92651822-da4b-43cf-aead-3cb52894d2d6 CAID:CA355962113 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1d3303d-9a8f-4c4c-b5e1-88ad12fc843a CAID:CA355962113 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cea8faa-14cd-44c2-a7ce-fb4f545105fa CLINVAR:2058952 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bee26ff9-f484-4765-9c4c-da8006798bae CLINVAR:2058952 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 517b19c9-33f3-434c-a2f1-fc7ab2380173 CAID:CA355965300 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18bdfeb1-3e3b-411c-b43b-c2ec17346e4c CAID:CA355965300 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb6edce-ed97-4fc6-8623-5d572669a877 CLINVAR:1067236 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a39fedba-d86d-40be-90e8-f88b652b010d CLINVAR:1067236 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ba599c8-eeba-4a2d-8588-4e0e61cea017 CAID:CA355963308 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfde9487-c02a-41b9-95c2-ab6c75807f55 CAID:CA355963308 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d41bd31-d618-4213-9b69-72a5d06b3f43 CAID:CA355965312 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58a13efe-7071-4499-a902-9120d4d22adf CAID:CA355965312 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7425462-8eae-43ff-aeaf-6ffee9ae6969 CAID:CA355962740 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de4c147e-a6f4-4e2c-bbf6-ac25c465655b CAID:CA355962740 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1004d00-2f8f-4429-bb81-3ba72554b511 CLINVAR:2432770 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4733a036-3a15-4eb4-bc16-0c0bfd777b10 CLINVAR:2432770 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23a29ef8-fc3f-4a7f-a67c-410f1c70620a CLINVAR:222995 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cfa7b1b-13e1-4fc4-8033-7a39eb02043b CLINVAR:222995 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f03d27-1f04-437d-a3d3-36f3dabfb02b CLINVAR:92634 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a3e6a22-5f93-47c1-a548-c59a4f3beb93 CLINVAR:92634 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0308022a-9041-4289-87be-fa695406e90d CLINVAR:554670 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1fa8c80-d2a7-48a9-bf6f-59f0e1c03304 CLINVAR:554670 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d7c96b6-5cb9-4f2e-aa6d-dffc9972407d CLINVAR:2825913 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4c1f839-9daa-4efa-b501-7e67f60c167e CLINVAR:2825913 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c4d3a59-fef4-4276-9000-7297ec0cf689 CAID:CA355961706 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b142e1ad-8560-4724-a300-cef63ff275da CAID:CA355961706 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86134c69-5488-4871-a0ad-0e60e33c019d CLINVAR:2585078 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ec03de7-7746-45d2-9256-c2f1a77742dc CLINVAR:2585078 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f870aa-c231-4d1c-b938-7bf40ce5d60b CLINVAR:1064675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f616e59e-fc83-4444-a7b3-fd6f396a8844 CLINVAR:1064675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609c2cfc-ba43-4972-9e5e-69a2cb2ecb33 CLINVAR:1742308 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edff5ff4-a2b2-4385-8539-8ff8ac80f1ef CLINVAR:1742308 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 828de115-81ac-4720-887f-61ed556c23fb CLINVAR:573410 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c7de194-fbdf-40a1-9da3-139ab6e43416 CLINVAR:573410 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a9aeaf-84c2-47c9-9413-6dd02b6ef00c CLINVAR:52823 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a57d909-2472-436b-961f-d3bfc8214bac CLINVAR:52823 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e7f167c-3f8b-488c-a9b7-2b759d2dc8e9 CLINVAR:462524 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1fc682c-6e94-4cb5-901e-643a17608ab4 CLINVAR:462524 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51bc609e-61ea-46b5-bd09-07ba578367ac CLINVAR:38202 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc38f473-b8c9-4c86-8f3a-39613f76e1c8 CLINVAR:38202 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82b9b98b-5057-4333-abdd-91f0a28bd155 CLINVAR:481525 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e69d72cf-857d-40c1-85ce-d0d801809593 CLINVAR:481525 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0db458a8-08fc-4954-be3c-9471eebf6f8e CLINVAR:409429 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fa710f2-3c8e-4c3f-b30a-200a0b28a200 CLINVAR:409429 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c49a172-638f-4f6a-9f65-4abe63a85620 CLINVAR:126168 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a0a7bab-54c6-4458-9d6a-90368b2c2161 CLINVAR:126168 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cbd93a3-140b-4e1c-83e0-6bd3854704da CLINVAR:545487 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54cc570b-0b6b-4926-ae05-559625e71aa3 CLINVAR:545487 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a08bd65-807f-435d-97ae-bbb02c324519 CLINVAR:52513 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc884c48-1dd2-42f7-95d9-f71cf3f2352f CLINVAR:52513 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a29c13a-a66a-426e-9ff3-c71405e475a5 CLINVAR:96860 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 291e0452-bda5-45df-a4c3-9dd0904e69d1 CLINVAR:96860 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaca08f1-ba9b-43fa-81f4-3163468aa924 CLINVAR:142784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5adb0d3b-5a31-44e9-9470-1fa8fce06188 CLINVAR:142784 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa76e94a-d213-4755-acc4-dee581f4dff5 CLINVAR:182243 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2fcd862-e551-4aea-ab3e-f90631660447 CLINVAR:182243 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4624373-1e02-4850-afb9-1737806fd347 CLINVAR:38114 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e66ed7a3-a2a5-4f24-bdfb-f7d3caa2d0c1 CLINVAR:38114 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e4a98a-cc21-4ad4-9d5e-8c13a39edf96 CLINVAR:91457 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f8277e8-8ee7-4a09-a75f-b8f78c536a79 CLINVAR:91457 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17f5af7d-1171-489a-8474-fb84d2de68fa CLINVAR:225732 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12b394dd-3010-4c91-a371-eb6bb383f826 CLINVAR:225732 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 103e434d-209d-4864-a37f-439bc43b4d02 CLINVAR:423044 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b578b63-4dcd-4987-a262-16dbc9aa4bb3 CLINVAR:423044 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b66169-b89c-432d-b619-312f881353a1 CLINVAR:55613 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b9f2256-0265-467e-aa2f-fab9c0070f81 CLINVAR:55613 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdcd71e5-3593-46d3-830d-09afac9c8fe9 CLINVAR:225711 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c95b9399-d8e9-46cf-b099-c041981bb966 CLINVAR:225711 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8cebfa6-066f-4970-82e6-0f7968f4ef3d CLINVAR:91641 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5271c1c-8791-4056-a2f9-f3a009397ae5 CLINVAR:91641 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d280696c-1ab2-47c9-8112-d148da2fbf15 CLINVAR:55425 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3adc5d5-27ff-4458-a104-b5a0851c07b2 CLINVAR:55425 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f260fa1-7e75-4ce0-a4b4-691dbd5aa409 CLINVAR:54704 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e3bc7e2-111e-4bdb-b372-1f437ebd95e9 CLINVAR:54704 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 559890a6-4a6e-4516-ae41-485815768542 CLINVAR:186913 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e23ffa45-1810-4ac5-846d-e5e0edd3b814 CLINVAR:186913 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31adae20-f0d4-4009-a3f7-9c067748c22b CLINVAR:55732 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa616e1e-16b1-4be8-b4bb-db8336e483b9 CLINVAR:55732 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d051ce-3730-40c2-bc19-e7cdcee4e36a CLINVAR:1683998 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4baf620c-395d-4315-a819-ede87584f849 CLINVAR:1683998 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abceb546-a000-4a17-bf35-81194e99be46 CLINVAR:100408 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7645720-628a-4fe8-a6aa-947aab379c1d CLINVAR:100408 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d7686d4-6675-444c-b064-fe97559891d4 CLINVAR:102805 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ddd7e76-387b-47e2-86ca-3d5606f5edac CLINVAR:102805 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35fca8d7-7f96-494a-88ef-34e01a5d83cb CLINVAR:551287 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 009b0c1b-b1ce-4329-becb-779c43580a9c CLINVAR:551287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c30d1a79-9bb0-47a5-8759-c7ff1f6d9fa5 CLINVAR:284945 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47ee6e5a-be71-493e-a108-91fd1421ea49 CLINVAR:284945 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09318578-ddea-44d3-a43f-5b0de6e38ee0 CAID:CA712895444 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a959cc4-83e9-40f6-94b8-20c6a08b6a26 CAID:CA712895444 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6fcd8d-b632-481b-99c4-dbae10eb7601 CLINVAR:217152 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdf136b4-a255-4d80-8abe-769d22ff4d75 CLINVAR:217152 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd4a46d-ff5f-4d4d-a623-11624c5c414a CLINVAR:282617 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60e02209-279d-4977-9bdb-51b3de5c0a48 CLINVAR:282617 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67b1f0c3-1d08-43b8-9698-5d32372a894b CLINVAR:551237 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b071a1d6-d76b-4e05-8f8d-7e6935e10c35 CLINVAR:551237 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0475a055-d7ee-4263-bbc9-68a0b5a884fc CAID:CA347224828 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ea0939d-52c1-4203-a06b-0bd135ec80b5 CAID:CA347224828 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b8ba7fa-a545-4336-bb24-f090f870c1f9 CLINVAR:6665 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae277eb8-f0f7-4e3d-81a5-a8572029a614 CLINVAR:6665 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aad97a83-1aaa-4b8b-aff7-5d2790729c52 CAID:CA2832612270 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24f70831-d89c-4919-8b4e-81e044290e26 CAID:CA2832612270 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9a4c9c8-c8e0-4b84-99fc-ef7168df64bf CLINVAR:498267 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca6f8b3e-2244-4e5c-bf10-db38a59e0add CLINVAR:498267 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ab64dbf-d09a-4854-ac74-c2cd6cbf48d8 CLINVAR:285130 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e97075d-15fe-4a73-ac7a-a7705e07b6ef CLINVAR:285130 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5ecab2e-71d5-40a7-a89e-661bd4d67d8d CLINVAR:1971 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e17ef980-92f7-4da4-8de0-6c48655719f2 CLINVAR:1971 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c85984db-b708-4ba9-bd3d-dd6cdd0bfe3f CLINVAR:1070168 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db76aa5e-ab26-4f67-a009-6dc01a4e1445 CLINVAR:1070168 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a25ead8-464c-4257-b249-4a324c813134 CLINVAR:660211 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 732ee4aa-352c-4826-a4a8-6d67c66a9c0b CLINVAR:660211 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1616030-6fcb-4383-886c-89a76d5e983f CLINVAR:863577 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 291ea97a-392a-40e1-9803-fd8dea01ea6e CLINVAR:863577 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0950186e-e3a8-45ae-a175-1fcf59e92e34 CLINVAR:13144 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c938b33b-e7d5-48aa-9f81-b6be55ad6a92 CLINVAR:13144 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4adccc8-15e7-42fa-b026-3c0e3be3c19b CLINVAR:960496 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d679aa41-e718-410d-87a2-d7937877061d CLINVAR:960496 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2aa3c5-f451-4982-afe5-e7bd07b05556 CLINVAR:370856 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04f92a15-c929-49af-92f8-2a80d7ccb816 CLINVAR:370856 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc631184-e360-4a87-b961-1c2467a74a5f CLINVAR:194315 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0380f8cb-ca0c-49f7-ae46-61dfdfaf0843 CLINVAR:194315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d80f5689-1682-4b41-b629-776f34d59eaf CLINVAR:421804 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee000e4c-cf8a-4bd5-b18a-2f2aaebc29ee CLINVAR:421804 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c8289b-ae1f-4578-aa4d-5766b8d8628f CLINVAR:127812 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dd8ebf2-127b-496f-b62e-9216caa29f99 CLINVAR:127812 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2da41602-70c2-4f7a-b8b7-9f5e1e27dcae CLINVAR:1375764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f7dbc77-6aa4-45c4-8f6d-ed9d3da58a1f CLINVAR:1375764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af0504e-a6ba-4758-9673-1d9eca75d236 CLINVAR:1524222 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acb8b630-5210-4327-bf17-58c2af5e7b16 CLINVAR:1524222 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef748649-620a-472f-8cb0-c14963574cc0 CLINVAR:490175 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00cb29ec-8bb2-4dc7-a1b6-32af76faeab8 CLINVAR:490175 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c51bc437-72c6-43a9-986d-28d3db2df175 CLINVAR:1696146 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59722da9-d47f-4d3b-9810-c003e4fa0dd7 CLINVAR:1696146 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519eca17-c222-445e-bbe8-d69c015c2ce1 CLINVAR:627374 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c071023-491c-41a8-ba66-5111b5ade694 CLINVAR:627374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0311e62a-8ae4-417a-b3a5-36ee657573c7 CLINVAR:1986858 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d885defd-30f9-4433-b08f-cde80493333f CLINVAR:1986858 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b3dfc50-c237-4b52-8440-ce231886244e CLINVAR:2946266 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e96773a-072c-44af-a2f6-445df20ee229 CLINVAR:2946266 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a076c1d-2371-4222-b52e-8a4035445834 CAID:CA23577160 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3fe5eef-75ce-4ac0-adf5-af22467175f4 CAID:CA23577160 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c27345b-bd2b-49c7-b061-4ec183de268e CLINVAR:2137414 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fc18c77-743f-4d71-9ba0-3054f51d580a CLINVAR:2137414 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16478004-7837-482d-b45e-7dcd76aaf22f CLINVAR:829832 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65ab00af-ea47-4944-874d-64e6936868cf CLINVAR:829832 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96a5e649-bed0-47ba-a49c-e244fef2d1e2 CLINVAR:235256 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df0fe3ee-236c-4ce7-807b-6b4cb107d0c7 CLINVAR:235256 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf4b6fe-3f58-448e-ba99-8636b4063a82 CLINVAR:98900 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2d9a72a-5eb4-4603-b9a6-438af5c42152 CLINVAR:98900 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9de9147-c71a-4f89-a747-ebce66477c6e CLINVAR:1491487 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fcc2ae5-cf31-4687-92b3-306282fdcd1f CLINVAR:1491487 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87c3c323-33ce-48da-bb1a-4bc3e70144bf CAID:CA354447929 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7020331-973c-422f-8840-978724b28d08 CAID:CA354447929 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f9e4c7-3755-4a4b-a2cf-1d72643f7ac1 CLINVAR:3588372 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76b1d255-9e6f-43b9-b1df-40bc873654b2 CLINVAR:3588372 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 954594e7-d3be-4c4a-8c36-74de78e01b49 CLINVAR:2503896 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e18bfaed-1dfb-4bde-a4d6-292b2644cea4 CLINVAR:2503896 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ff1fdf-fd59-4caa-8f32-3607e3a70029 CLINVAR:1691234 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 630edd69-e7eb-4783-b3e5-8ae6a6856ae9 CLINVAR:1691234 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154017fa-4e6e-441a-bd98-862aead50d26 CLINVAR:627355 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbd2c3eb-43b4-4936-8cf6-f92c5cfb20b1 CLINVAR:627355 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81b2fd3d-d17f-447a-84ef-a2569714a04b CAID:CA658795219 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c019dc49-8c5e-48a3-bdb2-60d62164d84c CAID:CA658795219 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba6f7bd-62e8-46fe-beb5-bedc192cfdee CLINVAR:1703859 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af6314ea-57c8-4643-b4ed-bdeba13a8dfa CLINVAR:1703859 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d562f057-ed26-4608-b3df-d04531ce8b96 CLINVAR:16040 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ede8f3c-6ea2-4b77-a16c-bca756d61ebc CLINVAR:16040 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9202e71-f3fb-4ac4-bf38-da47af4a533e CLINVAR:890136 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56f343fb-ab9e-419d-8613-a6127b98fe7b CLINVAR:890136 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68bceda5-6653-4d48-b083-230a19be3ce0 CLINVAR:2154687 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8035707f-b13d-4292-9910-b22fca4a6a12 CLINVAR:2154687 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95449994-bdfc-4c42-a8a3-dabbf89210f5 CLINVAR:2507419 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76da98e0-df7d-423b-bd3c-8d5eaa719469 CLINVAR:2507419 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cbefddd-faa3-4d55-8530-83badc3025d5 CLINVAR:932855 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2617ec06-66a5-44be-878f-f07f4e310ccc CLINVAR:932855 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac5a1db9-cddd-4511-ba67-f9c2bc057cb5 CLINVAR:541717 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e94e9875-b766-450f-b619-f36d5aa7f845 CLINVAR:541717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a875dd34-0db7-4401-8983-e9debfbc88f0 CLINVAR:2629237 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 778607ad-330a-4e52-9aaa-0e6dd00f325c CLINVAR:2629237 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13a954cb-1d0e-4db9-9635-a1ffe85f650f CLINVAR:2671648 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56ff3af9-40a4-44dd-b305-00416b7a13ee CLINVAR:2671648 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4134c7fe-e53f-49b4-90b4-2df5870872fc CLINVAR:1930166 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa94a041-3559-42f7-831c-c02fe4112589 CLINVAR:1930166 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aed14d6d-f291-42a1-9d3e-4c5a560aa712 CAID:CA343724600 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0adb680-2162-4e08-a473-0ff93b28a500 CAID:CA343724600 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6549c76d-d854-4dd0-9741-1367b6b299aa CLINVAR:448982 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7f2dcbf-3167-4272-a4df-804113745718 CLINVAR:448982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb18d9f-4c79-49c2-8945-ac6c4eb12ad0 CLINVAR:285852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d3e24dc-9e68-4070-88dc-33e857f0800b CLINVAR:285852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c99b1093-0c23-4bae-9106-19d6334149a3 CLINVAR:203584 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db69b6fa-865d-4d24-8ba6-cf83994ab61f CLINVAR:203584 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 127a389b-d22d-4ce1-a319-c12401e11f37 CLINVAR:166647 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a53f57c1-820e-43e0-bea6-250fd8218fce CLINVAR:166647 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79f9c4e8-e9e1-48fc-890f-18b0a40062f1 CLINVAR:932837 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32d08857-eead-42a7-b05a-d99b9656e156 CLINVAR:932837 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b163330a-d13e-46db-9146-9ad0a57014fd CLINVAR:193786 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0751ba1a-c9e0-4b55-a3ad-24529763c27e CLINVAR:193786 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c810d6af-3369-493d-b350-15d584d707a3 CLINVAR:100923 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34c09046-d640-4560-aed6-3c50b1d98441 CLINVAR:100923 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f4562f-1269-484d-8bfd-1f3de62613bf CLINVAR:1068471 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fabc9504-a48d-40fc-af86-bbaab0bb8b72 CLINVAR:1068471 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4b6e540-95b8-4734-aa80-f984905cd1fd CLINVAR:18021 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 271d3b60-6f32-45de-95a9-ea5fac7be12f CLINVAR:18021 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68b5a7c9-9037-41d8-97be-b6879c45197e CAID:CA343777475 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b43aae86-6432-4e22-a377-c8518414df56 CAID:CA343777475 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8f7e851-4510-417a-98e9-be06ef382465 CLINVAR:1997307 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc8621d7-dbb3-4ccf-bd0f-45c33263798b CLINVAR:1997307 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cce4daa-ca48-46a4-8841-4e6ae312d996 CLINVAR:1001692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 697b647d-4134-4bcf-95f8-71de3876bb05 CLINVAR:1001692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b977e0a-51b2-4ab4-b7d5-9af8d8c6df29 CAID:CA32782248 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 697c19f7-981c-4478-a076-984f97c7919d CAID:CA32782248 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18f209d9-5f70-437c-aef5-b35215eca466 CLINVAR:1353268 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2dacd38-cba0-4a99-b9b0-6c719be5e1ad CLINVAR:1353268 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f627fe9-943f-47e5-9c2a-8e4711640b8a CLINVAR:1678105 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d56f1250-b6eb-4a16-926f-5718c375f474 CLINVAR:1678105 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a3b61a-9ce4-4483-9266-6541a94994c7 CLINVAR:1324499 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4567aed1-999d-4818-b95c-744c70d29a70 CLINVAR:1324499 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb365882-988d-4e57-a35b-ec7071d2144f CAID:CA2695233282 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c45eee4-7ec1-4b11-88c3-39ce39c2fc0c CAID:CA2695233282 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c35d645-a5dd-4963-96cf-906174a33c5a CLINVAR:2907569 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c272c00-295a-4773-b055-5d7a8ae28bbc CLINVAR:2907569 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a95a10f8-5a69-480a-8e20-6e3346c34a10 CLINVAR:2736680 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 646ecc02-a615-4c23-8807-cfd079219511 CLINVAR:2736680 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f99b6ee-1157-4d69-b917-9fdafebd1824 CLINVAR:972792 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ebd56b0-7193-4b1d-809d-a7ed45cacbcd CLINVAR:972792 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d1e0a65-94c3-403b-95b0-799ee89e53f6 CLINVAR:2736673 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec6d4581-0834-4a2c-8c58-15a6e7605dd6 CLINVAR:2736673 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf27fc62-ea0d-4ee9-958b-81f0edb70422 CLINVAR:935900 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6709cff1-0a13-41c7-ada4-54308a3f81ef CLINVAR:935900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96e6cc39-69ea-4d67-96ed-af52d5c113c7 CLINVAR:2727745 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c6eeeea-e3bd-4399-b329-8edbc0394f85 CLINVAR:2727745 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 762f1cc7-31c2-465a-a876-e3015071c085 CLINVAR:1209876 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bf12bec-f788-4626-9c49-3acfcb5d4fd4 CLINVAR:1209876 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2a6d67f-5901-4a1f-809e-4215e08207ee CLINVAR:929411 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27f0775d-40bf-4b59-a4ea-876d26f462fe CLINVAR:929411 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7d58e80-4848-405d-86a8-417f514f6db7 CLINVAR:30563 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15cf0190-afdd-45d3-94bc-e9dae2404b76 CLINVAR:30563 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db53c20-e5f7-40aa-93d3-dfb1ad7165b8 CLINVAR:933077 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b25acca8-fd40-43c3-b719-fe0118111d56 CLINVAR:933077 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 162ba7de-fbe7-41d3-825b-54fc8be12939 CLINVAR:3501939 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85814c33-84d2-4e15-95ed-7ca480926883 CLINVAR:3501939 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c18d44-013e-47b1-bbae-fe97876e4125 CLINVAR:2903970 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6f3a933-7fec-45e3-8fe5-b03e5365e206 CLINVAR:2903970 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e3b1285-fc15-43eb-bd77-113fbf830813 CLINVAR:657274 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b415b15-3956-4e28-83df-ea3f1dd93034 CLINVAR:657274 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4363c414-8c92-4f19-a6ed-9c46a4598da4 CLINVAR:2445404 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d8fb18c-f96e-482b-89d7-4d5c9bdec0f8 CLINVAR:2445404 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dbc595a-762c-4839-9ce1-cf4e97e3a3c3 CLINVAR:183109 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f18b64e4-9e42-4c71-b7c8-1ed8c4ef39b6 CLINVAR:183109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb4dbc9-3abc-4d42-a4bf-fd653158bfc2 CLINVAR:226350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26f83567-f58f-4613-bb07-04db108f7141 CLINVAR:226350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61fc20d6-e3ca-4074-9f8f-eb62a8f6aa20 CLINVAR:3074081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96ff7b70-af6c-4048-b489-dfb1d953393c CLINVAR:3074081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 263b0c31-56e0-42a2-a152-4959aaa3ee6d CLINVAR:441214 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43bd2c3a-343b-46b8-ab23-5f051a2defca CLINVAR:441214 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7add0ba-2d60-42a9-b5fc-064ef12eaaab CLINVAR:99292 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91052957-e2ba-42c6-83db-05bdb1d4bd7a CLINVAR:99292 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3224e31-8b06-47ca-bc4b-c9f164795928 CLINVAR:417992 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3355ac14-bd5f-4951-90dc-02bcea4e7e6b CLINVAR:417992 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a86641-19d0-4805-9b28-f44b79178b2f CLINVAR:298237 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ac5fe2d-57c8-4d70-9cca-b447d1eceb0c CLINVAR:298237 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2450ce05-66bf-419d-99db-7938df6999dd CAID:CA386963839 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcec89b9-d3c2-4111-824e-768d69fd0e2f CAID:CA386963839 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2053cdb-0dd1-4982-bb30-dbfb2e2bb51b CLINVAR:14944 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4981c60-83f8-470e-b6ab-fbb849d4ed55 CLINVAR:14944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16021fab-1870-4215-bed2-9b9531e0c809 CAID:CA386964102 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6ae1543-7c9b-4d76-b872-e1c33c352ea3 CAID:CA386964102 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abb09357-bfdf-41fb-9656-f05825b79f04 CAID:CA2573051299 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d569ea39-7b68-4166-9867-6f26cff26e31 CAID:CA2573051299 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1fb4d74-ad18-420f-a771-da983cd5d696 CAID:CA2580612115 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ece4dbda-07c5-4a1b-a5b6-111d165bcf4d CAID:CA2580612115 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e76e8650-3bcf-4aa0-bf48-e1d6cd828adb CLINVAR:585916 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae512e24-7826-4054-b18a-1fce85ea4cc1 CLINVAR:585916 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c52940-854f-42f0-8818-642043aba3dd CLINVAR:2635153 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a51a7b4-0674-4062-bfd9-08ca68fedaa5 CLINVAR:2635153 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6b750ef-ab1f-42f1-81c0-322d948677eb CLINVAR:1700674 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c3c570c-b50b-4d57-a05f-5dc2587cbafc CLINVAR:1700674 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b026353b-2463-4fde-a257-c2a012c61c93 CAID:CA367398213 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6bfc58d5-1ee7-48aa-b859-2e694d827f7e CAID:CA367398213 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f34f24-2318-447f-9193-a24f4a069ef7 CAID:CA367398211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 301cf544-7a31-4790-97b9-2ccb5e94bd64 CAID:CA367398211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd257ab4-ec41-4fca-bf34-3681b79052ab CAID:CA367398219 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d2a312d-64cd-405f-b2f4-9b19a5249796 CAID:CA367398219 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f60c5c6c-88ec-422d-99ab-b25194d3b2c8 CLINVAR:804839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92fa34c0-92ed-4116-aa2b-ff23ab336e2d CLINVAR:804839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025f15f7-4c22-4693-b351-a03ab9eaa265 CAID:CA367398220 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67a03330-c45e-46f4-af62-abad029dcac2 CAID:CA367398220 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21cd84b-4bd6-4bd8-9aa4-aaf8a8c81735 CAID:CA367400741 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a06974ff-50d3-42e9-8759-9daee3d4bd57 CAID:CA367400741 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cabaa080-e5ce-4e6a-a854-906a376e2a2b CLINVAR:447404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a1083b1-b63e-40f9-847f-ed37cb6458e6 CLINVAR:447404 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4797983d-fc70-4e11-9b67-68aa6de445c1 CLINVAR:1743101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 267c4238-c85b-4366-9f8e-9d837bd16ba9 CLINVAR:1743101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ff8b1c1-f45a-4361-853b-cb556b5b1044 CAID:CA367401841 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a206b8c-a08e-4740-95ea-9ec5d5d248d9 CAID:CA367401841 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 573eb9a2-9cb1-4cb9-af27-1f06a82b2ee9 CAID:CA367401839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6c6ec52-6006-4d5d-8329-f3c545040b86 CAID:CA367401839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd81de2f-2214-4a01-9cfd-113883ace7d8 CLINVAR:36259 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5edca835-5548-4dde-b56d-4936b69372ab CLINVAR:36259 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 030afedd-b28e-4007-9576-990f9e5c3aa3 CLINVAR:1464253 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d98cf41-be80-4f61-a4f0-9a91cadad498 CLINVAR:1464253 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea97dc73-4883-4a63-a145-a0f9754bf382 CAID:CA367401151 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e333ec8-5008-4712-b964-d19ed3e2dfac CAID:CA367401151 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5248493-d45e-4140-8863-31017ecd962b CAID:CA367401143 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08e293eb-0867-41a5-81ff-f537036137bc CAID:CA367401143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08b911b4-278f-416b-9395-c2a35c0a7eaa CLINVAR:3661587 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 383e2769-7450-4bb2-9398-23ce684489a2 CLINVAR:3661587 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f461bcd-02aa-4224-8b20-758965641f63 CAID:CA367401307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b17f340-33d9-489c-83f9-5441f441996c CAID:CA367401307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd97b6a3-afac-4046-ad47-3dad78163221 CLINVAR:1933344 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3adcb0cb-ee61-4a35-a6ac-7f187f7153ca CLINVAR:1933344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3510805-aeee-4b29-806e-17d81f01e6ce CLINVAR:1679547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6659806e-a07e-45fb-a851-6f097e3f5c5b CLINVAR:1679547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1910615a-c6de-4679-90f1-b2aa7f6ef3a9 CAID:CA409110474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fde6652f-1a08-44a9-ab7f-b246f8019e82 CAID:CA409110474 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4c3bbe-9fa6-4555-a814-6cc25f171ed5 CLINVAR:3664830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c4d0636-fe4b-4513-8231-1d2de5b810b0 CLINVAR:3664830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 516b0084-f871-40aa-a14a-ad6254c9cb3f CAID:CA3250171760 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b843355-0518-4a38-a1c7-1ed0b04e1f85 CAID:CA3250171760 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb44cb8-5664-4505-9dab-3d755df5ae8c CLINVAR:68535 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a3124b3-1ca7-40e4-b8ca-8bc6fe098315 CLINVAR:68535 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 707b2da6-8b4a-41c0-80d3-c3454de43b51 CAID:CA349071276 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76b76105-092b-4be7-9f05-692a8b677521 CAID:CA349071276 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff3216d-b378-4460-b522-c7e97fc77eb3 CLINVAR:4079962 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 212b1d8c-8b2c-4b8f-9909-ad8886ebcc11 CLINVAR:4079962 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b39a3d83-1035-41ae-91d9-16065b1a2e06 CLINVAR:68667 biolink:genetically_associated_with MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7882d77-42fc-4d60-a321-07154918b9c2 CLINVAR:68667 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c6f4a54-7000-4308-9893-56355b00e420 CAID:CA349065650 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9c14389-7dbe-4ef0-ae4c-3331df6c6183 CAID:CA349065650 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b8fb351-87ec-4eed-b2bb-36225726af7e CLINVAR:189965 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcb9b384-0aed-4052-86e5-e06eea2c9d67 CLINVAR:189965 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad5dc363-d870-455c-8353-e9922361ee5e CLINVAR:646111 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 229459cd-0073-4b7d-a14c-a48a21495fd5 CLINVAR:646111 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a88616a0-6f52-41c9-b29b-a15e3876c5c9 CLINVAR:1171040 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59ff9144-c286-4930-a157-e58929d0e923 CLINVAR:1171040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9728a5f-1723-4cfc-92a7-e2026456e410 CLINVAR:1454181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8af8dc9c-372d-46df-b64e-a863db513849 CLINVAR:1454181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe16c3f-7698-4333-9229-6ca8dcfa371d CLINVAR:375836 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e18ce22-4343-464a-af69-649ece35c717 CLINVAR:375836 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12a910cd-b40b-4909-8332-de9b2220d9f7 CLINVAR:440532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bb3ed09-45c3-4d60-b94e-1bd54cd9475c CLINVAR:440532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5363c16f-b863-4367-9e05-0a6236e148ba CLINVAR:265904 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b12c27f-7531-4859-b18a-0fcfda3024a0 CLINVAR:265904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c27d016-0809-4c62-a40e-54bc9d30adff CLINVAR:440616 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 930fd9db-be8f-4eb2-8ed2-4dd2b78af0fd CLINVAR:440616 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fadb065e-789b-4eed-99f5-9bc1de4b7518 CLINVAR:251371 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b36a741e-7e2b-42ce-b3d0-e0f8467b8b51 CLINVAR:251371 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2c0c540-3657-4ec6-bd5e-c8362f8fda8a CLINVAR:440656 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7fad773-62da-4af7-b4cb-f8d2c1e5a083 CLINVAR:440656 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4612f4e4-170a-4722-8044-25fb79c8ec0c CLINVAR:440551 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03b2e7ce-d1ba-4d55-a94d-4c88ddbbab88 CLINVAR:440551 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98473a8e-4ac8-458a-84f2-63cec2dcb00a CLINVAR:1958 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 378c4710-5b41-4061-86ee-258b19db185e CLINVAR:1958 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd9d293-bef5-44aa-82c9-b09dff0f3a7f CLINVAR:10025 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7e39472-4c3b-4f85-b095-90de40c53369 CLINVAR:10025 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f041ee-c344-44f0-bf15-e5b1c8b6265a CLINVAR:1045150 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d740283a-0b7e-46cf-8106-8e3962c22fc8 CLINVAR:1045150 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f749ec8c-8268-40c1-ba37-72a691db8720 CLINVAR:1322957 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1d85a79-4d9c-4da7-9ec0-efa81c37cd4e CLINVAR:1322957 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ca8c255-23f5-4a19-8df8-6c23c363394d CLINVAR:1687091 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fae5cc11-7b0c-41b5-8b90-d3874d7dd5af CLINVAR:1687091 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c6d9eaa-e85e-4855-9df0-1476be6c43fb CLINVAR:554593 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d93c33d-bef2-4db5-a6a0-47698cb275ea CLINVAR:554593 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 598e1b9a-3e06-4b76-b462-ae17cccdde12 CLINVAR:3639714 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 113553ec-4bba-430b-89c5-93061b34d952 CLINVAR:3639714 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a3de07-2890-465d-8860-bc02fe562907 CLINVAR:553029 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad08764c-a8e8-4dc4-a98f-06041685d51a CLINVAR:553029 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c04aa86-139d-4805-b4b7-440b509f70fc CAID:CA355961926 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a947329e-4595-4486-bf96-79e070b5b7dd CAID:CA355961926 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33d16d36-8b28-4069-958b-a6893bea15e2 CLINVAR:1076378 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6446508e-98a6-41fa-84c5-7c78c73a1323 CLINVAR:1076378 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 628baff8-e4b8-4ef5-839e-1f443b2e776b CLINVAR:2145829 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d3ae614-24bc-4dbe-a3a9-3ad4b7b75f91 CLINVAR:2145829 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14db1d86-783e-44ee-8f9a-052021fa0fa8 CLINVAR:2184620 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b40b2aa1-809c-4b31-8c2c-b311a3c731c5 CLINVAR:2184620 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae5da1da-e41d-4255-9123-b582c4115c88 CLINVAR:638077 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47767b85-2cc1-4cc6-8190-683d9e809221 CLINVAR:638077 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 513e7437-1d49-4edc-bb27-b05af4644649 CLINVAR:1328979 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59495ff4-1c97-4011-b832-742991f0def1 CLINVAR:1328979 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68fe8089-2ab2-4292-9d92-1ddb88175dc7 CAID:CA658760370 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5969203c-4de6-45e7-9d08-b8dd5d5e7243 CAID:CA658760370 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa193cd-5ff7-4cf9-a4a4-0d54ffd93b20 CAID:CA397317465 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a0da4c7-7f85-4447-8845-6e35a1cd6aa6 CAID:CA397317465 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c02b3b3-9714-430b-ac35-0a64afea1980 CLINVAR:1031446 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ea8f137-13a5-4677-a5a6-ff0f07e29267 CLINVAR:1031446 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4973364-39ef-4a0b-8887-06da6dd6e0ca CAID:CA658820739 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63501ae5-5d30-4e5d-a642-7304b0116f4c CAID:CA658820739 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4372f419-f5f9-43fe-b1a1-0dc93fe41a9b CAID:CA3250151382 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1163100-f522-473c-8121-746b49c67673 CAID:CA3250151382 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfaf3d96-77b5-423a-b299-b1d61388663d CAID:CA2580611803 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6791385-7367-47aa-86c0-05259e2399e9 CAID:CA2580611803 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d6af634-3b28-421e-a2bf-e9fe14be46e5 CAID:CA410677368 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8b026d8-7c28-4bfa-b945-e98795ba2d9c CAID:CA410677368 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b2afca0-f1e9-436b-9d62-c3e5fe4fae6c CLINVAR:1691233 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58093b4b-19a5-48ef-89ba-3c8cef7c4f15 CLINVAR:1691233 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3274b176-faee-43be-8c25-f4f655670347 CAID:CA354447595 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68e08a7c-c1e2-419c-9271-284e159f6b06 CAID:CA354447595 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80829919-c707-4ef6-9e83-eca49d2fa36c CAID:CA354447724 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 327e8f63-c9b0-4d7e-aa93-27945fa65f0c CAID:CA354447724 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9008999-0245-40aa-98a4-f1decd527ef9 CAID:CA354448412 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fa892d9-17e8-4a9c-a627-407df98146f5 CAID:CA354448412 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fe25153-5d2d-494b-ac1d-1d64e3cc30f4 CLINVAR:1683228 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2af4dc0-4b87-40e5-a906-53ad27553da7 CLINVAR:1683228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 912004ee-13db-4d6a-94d8-bcda1f42ac55 CAID:CA2586965987 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a61905ca-b42a-4052-b1ab-7e4a75ae0938 CAID:CA2586965987 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 469a74a6-10ee-4859-82b2-78a3b59cb7a9 CAID:CA2586965989 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b084ec0a-b0d0-47e2-994e-11c954f29d26 CAID:CA2586965989 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a907fe90-c8d4-4f03-8504-fdf41bca08b9 CAID:CA355963142 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d5d7623-2c8d-4ba3-9415-ecbf97a6987e CAID:CA355963142 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12a8ceeb-fb83-4bd2-933c-19998f6b5d23 CLINVAR:2577224 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 743faadc-7f44-4a56-ad24-013f7b99e1c8 CLINVAR:2577224 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5962bdea-f2dc-463d-a6f1-eabdffa5a8a4 CAID:CA414915827 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac5d9e7a-aaa8-4571-8d67-846e649be316 CAID:CA414915827 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ca605b-6d49-460e-b564-b50ed6db4791 CLINVAR:826488 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f294b61e-34c9-42ab-9fa2-d1edb4c880b0 CLINVAR:826488 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ae1f28-adc4-481a-9818-c940ebf4f89a CLINVAR:824232 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59ecaa78-5c35-4903-83d2-61bbecb6ec81 CLINVAR:824232 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff1ba1b-eb4f-4ce0-813b-e707ac5bfc4b CLINVAR:422414 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fa0404c-3541-48af-96f9-ccec209820ee CLINVAR:422414 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f0dbee2-b248-4ad5-9c8f-9b09f684e779 CLINVAR:2758378 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d15f3f18-83e8-4626-a274-37911ebf2ed5 CLINVAR:2758378 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33cd0d51-ddbd-4b8d-8a9e-62ce37b56e89 CLINVAR:376633 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f16780e-78f0-4151-9cf1-67623caf8720 CLINVAR:376633 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eea466d-82a0-4aa1-914d-7516b91ccde0 CLINVAR:551723 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74da53e2-876e-40e6-99ac-9a235e7f89be CLINVAR:551723 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8dbbe0c-d0b3-438d-ac87-e055dca5ed83 CLINVAR:208611 biolink:causes MONDO:0009677 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a89a746f-f98d-49f8-8758-8368f7fea3f6 CLINVAR:208611 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80659032-ca5a-4c25-9101-92f542ae84c9 CLINVAR:94305 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee5feec1-a606-466b-a0dd-ec23d8bc66f9 CLINVAR:94305 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df4e9d07-df31-4237-b311-2d58197a98ca CLINVAR:195748 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67523c28-c80d-4f1d-843f-2f8ff6096eb9 CLINVAR:195748 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b5d4e6-c54d-4e4b-a746-3bd95170614d CLINVAR:496979 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af23e763-9df7-4e3a-a2ab-e141b9756efc CLINVAR:496979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e0b8e5-0cf9-4959-9028-24bb70dfcf4c CLINVAR:288397 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f2e9afb-279f-4849-a3c3-f2bd49ab4dbb CLINVAR:288397 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d508a14a-49c7-4d14-968d-4ee9106ab413 CLINVAR:2441135 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54aad149-94c4-48df-8503-c95194b5ad50 CLINVAR:2441135 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fb28b5d-9554-481e-b37f-97e444bf559f CLINVAR:217149 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d4a4231-d286-4cdf-b16a-964a3fbdc5dc CLINVAR:217149 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9742d2a1-c698-48d5-8d6e-430a75708eb0 CLINVAR:96679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 805ddac4-5310-4eaa-bbb5-a79818a5867f CLINVAR:96679 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78e92c86-fa57-48db-9e72-5d34d367edd0 CLINVAR:813969 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09211fc9-a37f-4031-aeea-6365957e1c05 CLINVAR:813969 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e8b2633-5528-457a-9c9d-a858215f01a4 CLINVAR:281140 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03d2a5f7-d7ca-4a41-ab66-be610597196c CLINVAR:281140 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e19248a2-9292-49d5-ae44-6dd5e1bf5f70 CLINVAR:198495 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03c5af56-edc9-4278-a202-f4581d53ee87 CLINVAR:198495 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd2ee003-a20b-4c8d-85f2-ee81f642121e CLINVAR:2441119 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c52928e-cb04-4d64-9cb9-1fe28a93a5da CLINVAR:2441119 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 106f559a-717e-40f8-b948-c929ec135716 CLINVAR:288183 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e61fd86-1185-47d8-b8bd-43c2cf61b51c CLINVAR:288183 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4165354b-2e0f-4631-92e0-dbd8635e0fcd CLINVAR:281954 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5208ea2c-d633-458b-94eb-f23e207af5a0 CLINVAR:281954 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 098ab523-0019-46d9-987f-4e88648700e2 CLINVAR:545663 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5e4a592-8ecd-4470-8141-c54165847082 CLINVAR:545663 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af2f7caa-347b-4efa-a542-646a9de57b39 CAID:CA2586964930 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47f09334-cbfd-4152-ae8c-0a90af24306a CAID:CA2586964930 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3e0dcb8-77cc-4dca-98d6-ebf25685c412 CLINVAR:545009 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f831da4-fb79-42d9-ae80-a0d682b15996 CLINVAR:545009 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48523667-4808-4cb9-ab11-e7250a5b572a CLINVAR:288442 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 971bb6ae-1550-48ff-bc17-d1e12ab53423 CLINVAR:288442 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12cfb07b-d4d5-4b6f-9ab2-abc9c071bc2c CLINVAR:551236 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 829b9fc3-082e-4f46-9f7c-8c11a1b7d868 CLINVAR:551236 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f97aa158-b1f6-4e54-8b90-5ef673b61d44 CLINVAR:196175 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bae982b9-4f39-4894-a1af-512e9726129f CLINVAR:196175 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3b4cb6-b476-4d3e-9e7f-5af46414ba98 CLINVAR:4067072 biolink:causes MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03f9adc0-85da-4f2c-93a8-d7476090fe38 CLINVAR:4067072 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1831d4cf-40ad-434c-a5ff-2af9c6a35fd3 CLINVAR:94303 biolink:causes MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c651cf0-cfd0-4dc7-8c0a-55f061d32236 CLINVAR:94303 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92008c47-2180-4484-9808-6569291746cb CLINVAR:282449 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d33a9d5a-1c74-49e8-b4d6-4f3e5408dad0 CLINVAR:282449 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1350dea3-7da4-4134-b18f-2f0f6416d97a CLINVAR:6676 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e53ae370-dbf5-4002-877f-87b5bd9181da CLINVAR:6676 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a16354-7893-4d92-a04a-1ff5478431a8 CLINVAR:2441144 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c1dd63f-93bf-42c3-bdbd-509b15494356 CLINVAR:2441144 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 698505f3-2a4d-4ffc-868b-fc1b072fb7f8 CLINVAR:498954 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9eb939a2-113a-4a1f-870f-a9815dd6e775 CLINVAR:498954 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb4f88f-9291-43d9-8e04-9c4fc5b8c690 CLINVAR:1521979 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04f09d30-bcb7-481a-953b-7dffcc6a8c1c CLINVAR:1521979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 149c03a1-0ec7-4b87-9d70-2a89d964d902 CLINVAR:658470 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b295e133-431a-459e-bd6c-cd59583bf8a9 CLINVAR:658470 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff06bc8e-69ee-419a-b5af-f2076e2772e9 CLINVAR:288830 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ce39e31-1b4e-4258-ae93-1dc068887a13 CLINVAR:288830 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d62bc95a-d274-46f8-8d10-f16ff79cd4da CLINVAR:2674972 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9ed5eaa-01eb-4fcf-837c-f54f55522c1f CLINVAR:2674972 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8971852b-67d3-4154-accc-8874b86fd42f CLINVAR:242527 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5105833-e530-4de0-a37c-7fc49e460e60 CLINVAR:242527 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6704e6e6-2354-48c3-a579-4352ffe49e6b CLINVAR:567124 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ce5c51b-70c0-4141-8b15-45180c9f4fa7 CLINVAR:567124 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57f1aae-68be-4a9f-88f6-ec2573fba6af CAID:CA347220971 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0433173f-f49a-4f2c-a036-4b95b2606373 CAID:CA347220971 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8b19e02-28b2-49a2-8806-a2614464c7ca CLINVAR:94336 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b25037f8-4718-46fe-9df5-f64b66b7af68 CLINVAR:94336 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c3524f8-fac8-4160-a50f-3fdb13002873 CLINVAR:283243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85a945a1-7637-46dc-828a-b92910dde425 CLINVAR:283243 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ce4893-df97-45e7-9597-fc4600af80ce CLINVAR:284471 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01b845d7-97b9-436b-bda7-6f2d7d23bc66 CLINVAR:284471 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32184bc1-80ca-4fb0-bc87-55682f623ee3 CLINVAR:283475 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33a34e92-b2ab-4489-90db-0c03d326910b CLINVAR:283475 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b8ef186-dcf0-4e56-bce1-912b31f0ffe3 CLINVAR:858838 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aff2d8fd-698f-4ab1-90cd-b6df9df0de59 CLINVAR:858838 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c99b78-5d10-4c9a-9d04-85687a74f5d0 CLINVAR:17614 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f3969ef-2288-4960-9087-aa21f9f7adf0 CLINVAR:17614 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7741161c-713e-4700-89ad-6b3aa1e5de69 CLINVAR:551477 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad11c3b9-2ff3-4917-bfae-4c261fac437c CLINVAR:551477 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207d3f9f-bd67-49f4-9afb-e0352722d124 CLINVAR:871348 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecb86074-6939-42bc-b8de-b95cad196123 CLINVAR:871348 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5be11d8-c7d4-44da-9108-132b83b9199a CLINVAR:2163 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c03818a-12e4-43fd-8056-3f163a5cdae4 CLINVAR:2163 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9551b755-3ba2-4a14-abac-757d09335eb5 CLINVAR:280038 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b4e935f-ece3-4884-bf88-c076ae8aa5a2 CLINVAR:280038 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d47aa621-2136-42b2-8880-e9d2ed033d00 CLINVAR:1491619 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b39ea0a-6513-48af-9cfd-ef1f41518ec3 CLINVAR:1491619 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11686f26-fced-4b8f-b997-c0e49696c010 CLINVAR:597829 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc140502-a30c-4cf0-b280-747b857df959 CLINVAR:597829 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31b426a7-f65c-4105-beea-07caa8646fab CAID:CA343724244 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fe45c30-04c1-4eab-aa8b-d95271efc4d2 CAID:CA343724244 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19e44e57-ccdb-4009-9d91-6a97c1af916e CAID:CA2649105995 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c55f869b-303d-4bcd-be34-6386353a77e4 CAID:CA2649105995 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ef73d86-00ac-4676-901f-7e73ae9b23bb CLINVAR:99343 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d4a3fc1-f466-4626-bcfc-f3b3208d3fb6 CLINVAR:99343 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b605f0f-1f88-4e2f-a8ed-bb7dc6a2620a CLINVAR:99476 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79085b02-74e4-4541-8e1c-068037f6a9c2 CLINVAR:99476 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c37ae46f-7c31-49db-893d-43dd798835ef CLINVAR:650634 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d12ed2e-0444-4979-8604-829437b2dd22 CLINVAR:650634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7059ab6d-0e33-43fe-9968-0bb1410cc3b4 CLINVAR:501312 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ec0a8fd-0f43-4e4c-be40-ca07b061eed4 CLINVAR:501312 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f91edd9-9481-41fd-b5d3-349703504662 CLINVAR:14210 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ba1bd10-430a-4b98-b399-1fec4509317e CLINVAR:14210 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 422f1402-89a2-469b-8bd3-f318b61297b2 CLINVAR:1683999 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8f6ec59-1cbc-4254-b425-bee7e216c70c CLINVAR:1683999 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61587795-6c3a-465d-be04-11be3b581b2f CAID:CA2580612114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d62782af-201c-4729-92c7-f28109540cf8 CAID:CA2580612114 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7356a0a8-a678-4c21-94e2-09061af267b8 CLINVAR:585928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 688e869c-9592-4c48-93d5-b66a2f0e76af CLINVAR:585928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c1d5596-eeb7-4f82-8fa6-da3565b7025c CLINVAR:3766052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00b10d3f-ef66-408c-9764-970015f92820 CLINVAR:3766052 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76475e46-c673-4740-b65b-805692a3ce8a CLINVAR:2136531 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a8ebd70-63b9-4c5f-ab66-070c983cce2c CLINVAR:2136531 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9495396b-ec41-4416-8e7a-6afad435eede CLINVAR:447422 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b917c300-8f73-4d68-9e3b-455088045d38 CLINVAR:447422 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a6a8fb-2dd9-4e8e-8baa-73c16dae7601 CLINVAR:1720715 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6616239d-6eff-4e56-87f0-85eca88dedf7 CLINVAR:1720715 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ff1fe6f-28ae-4801-81ef-2d3daf33e224 CLINVAR:2202780 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18ac5d3a-8c6c-44b7-ab64-c68127fdf2e5 CLINVAR:2202780 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d86c4f-0170-40c8-aa1e-6dd904892d1d CLINVAR:2202779 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1485d6b3-b154-43cc-8e37-50fb9f31e4b9 CLINVAR:2202779 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88132090-ee3e-4c78-b6e8-0ebcc5796dd7 CLINVAR:1048145 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40fa6c87-d032-446c-a62d-643b4ca278c9 CLINVAR:1048145 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66a6760f-1b6e-478f-b61e-e1497ca341ea CLINVAR:99472 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81205f94-cf40-4288-a886-03d77425aaf6 CLINVAR:99472 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1288f5ef-f0ed-4d69-a86b-fafdfabe73b9 CLINVAR:1457683 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08df3575-1648-4812-81ac-879224e6c0a9 CLINVAR:1457683 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1f14706-2714-4bc9-8545-a226a578fa45 CLINVAR:1999524 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fd7c61a-e51b-475d-b043-321303a8f3fa CLINVAR:1999524 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71900fa6-d5e6-4cde-b393-64c6778eeedf CLINVAR:99428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b28aac64-f0d7-440a-b4a0-5a18d071ec03 CLINVAR:99428 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9aac5e3-bcb0-40a4-9c92-3a13b1b9f584 CLINVAR:18029 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 079c1f3f-cd76-469a-83df-0869db97c74a CLINVAR:18029 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7992f3ed-1c73-41db-a134-0ef5942f46b1 CLINVAR:2429353 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12299058-d904-4407-ba07-383f5b8017b9 CLINVAR:2429353 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfe6708e-005b-44f9-8170-81a6146648f2 CLINVAR:18041 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5224040-386a-46f3-927b-7eff32c5df3c CLINVAR:18041 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef78dae1-1e08-450a-a47f-dfa5ff240990 CLINVAR:18023 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f79cbf2-1205-4012-a822-dcf6e0cb2e61 CLINVAR:18023 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1aa2a0b-7d80-4736-b521-3c7ee33f96a9 CLINVAR:1028786 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff056c40-03a8-491d-9e6c-64e1143ca3b2 CLINVAR:1028786 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58b26698-d57b-4a93-9bce-42bb4a5ceed0 CLINVAR:661362 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db8b2a95-4bc4-4a40-9f92-d6de51ea8832 CLINVAR:661362 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2681c3f-a277-4f8f-8a85-ed0194293373 CLINVAR:618107 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8d40eb0-0708-47aa-acc7-81780b2abe3a CLINVAR:618107 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ab042dc-7073-45db-b53d-e243663bdbaf CLINVAR:627155 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29472ba8-bf13-4f3f-8676-74c9f92e89ba CLINVAR:627155 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2259b7d-e2b9-4c5b-9cd1-415182ff5c13 CLINVAR:102486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 643a5dce-2bcc-43a5-a8ee-f08ae8f1d76c CLINVAR:102486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 934689bd-958d-4ee5-b304-e37135e8cc71 CLINVAR:458078 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 498e9914-5707-44b8-80a7-4e69291a9e09 CLINVAR:458078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82e5cff6-20ba-43fe-b998-fad3e4a7fccb CLINVAR:590456 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1ac076a-8447-4af3-b025-4be6b553430b CLINVAR:590456 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e75cdd-85e0-4315-97f7-2dfc26ec3f87 CAID:CA2584893460 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c98622c8-792f-4827-a6a3-32df7bc08ef2 CAID:CA2584893460 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0c619bd-da1e-445d-b64d-abedda044881 CLINVAR:2903463 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdb4cefc-03ae-4d65-8b05-2fef3f686cd0 CLINVAR:2903463 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ee555d-957d-451d-bb02-a307c6bc2759 CLINVAR:557150 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9f8fe2e-a9b2-4ee2-9475-1f67cac78673 CLINVAR:557150 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab1ae82-4638-4266-a608-1914809300cf CLINVAR:556156 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db6c5fee-0161-4710-b2e8-fad4f835596a CLINVAR:556156 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6834fb5d-8047-4f20-af33-57613e3f1c0c CLINVAR:1076379 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e705352c-c674-4134-95b6-843877ada0cd CLINVAR:1076379 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12cc3a18-9c2a-49c3-85a6-825e2717edae CLINVAR:554213 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b771616a-7e09-45b1-bd1c-8f840962a9d9 CLINVAR:554213 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2af60c-58ec-4be6-ad08-82cda682a44a CLINVAR:550458 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ef86953-bdae-4441-a8f1-c26a53ca69ce CLINVAR:550458 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c75d27fd-d429-4d59-aaf7-17ecce5700c9 CLINVAR:556184 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e5f0c82-40ac-44b8-9ff5-7360306c4aaf CLINVAR:556184 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111116d0-89ed-4528-9543-c3388d175f7f CLINVAR:440660 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f17a6f08-1166-401f-bae0-4a980e9b16f7 CLINVAR:440660 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e651b914-d8ab-425f-8701-227da8cfba23 CLINVAR:440604 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f77be7ab-2b58-4f4b-90fd-2c7f7251dc57 CLINVAR:440604 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c81fe8-d5c0-418f-8b1a-29e5723ca894 CAID:CA3050953909 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c85916c-9f53-401f-bf05-63e64638624c CAID:CA3050953909 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a315d747-f43d-4b06-86c0-a0cee0375ec1 CAID:CA8314879 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2469d695-b554-4671-8077-222d03729fe5 CAID:CA8314879 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba739bf-4074-490e-ae0c-0f02c0b50f6b CLINVAR:4151 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2531d527-5cd6-4b12-aa1e-582cfedcca30 CLINVAR:4151 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72608eac-a5f7-4081-95ee-890e22e68a3c CAID:CA2580610935 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a62b661-eb7d-4303-a184-1931edf4d65e CAID:CA2580610935 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3781dea3-ef2a-4771-9f7e-a8d416fe21a7 CLINVAR:993015 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d30462e3-e579-4bf9-a8de-8f87ba6a8268 CLINVAR:993015 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d024143-c8c8-421d-a2ae-715fbc429124 CAID:CA354450038 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96a7baf2-deb4-42f2-b80a-1ab0eeba63ba CAID:CA354450038 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a436857b-80af-4305-8d66-9f02783be4b8 CLINVAR:627039 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66ee2116-d55b-405e-8d7d-f8b6a94ebe68 CLINVAR:627039 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9b7a7a6-72fb-44a6-a84b-330e87183c88 CLINVAR:13531 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e74b479a-26be-49f5-83b5-c79ff19fe56b CLINVAR:13531 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf89405-96a7-4b5f-858e-d3bb17626df4 CLINVAR:4687494 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69158f20-fb70-4d50-b43d-d126c907330f CLINVAR:4687494 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eedbc031-14db-49a0-bb44-2d6172e977d9 CLINVAR:52448 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba68aaab-21da-4aca-ae4c-2ff38223d3bc CLINVAR:52448 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f046247c-750f-4890-a402-4da08cde912a CLINVAR:55433 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ee2a0b6-4fe7-4aed-a881-0ebe5102140f CLINVAR:55433 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27a67af9-6ebd-45d3-ad23-2dfb425f3879 CLINVAR:232793 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2007140-a521-4a49-bdf2-9f80db348b10 CLINVAR:232793 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42825517-5a97-41ea-9bff-29d2ab5912e6 CLINVAR:3723841 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f3bb11f-f2f7-4cf9-8d05-9837bfcda905 CLINVAR:3723841 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d2630a-fb1a-4aeb-a036-ca96dd0f99d1 CLINVAR:36227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b23dbba1-9d38-4173-8798-befe1067691b CLINVAR:36227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 487d9ee6-f9e1-4402-aa43-a2f1f69e22b9 CAID:CA367401653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8cbd84b6-2155-4506-9d66-dac6e8ef7d42 CAID:CA367401653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d6dfa52-6546-4dad-9445-498a03fbbf1b CAID:CA367401649 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8132aecf-9db7-4bb1-ac02-40c848e5b3b8 CAID:CA367401649 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bcd10c7-709d-435b-a92d-9bc6b9b1516b CLINVAR:972809 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4e82d94-6893-4b3c-9cfb-9417ac740517 CLINVAR:972809 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfd9f4e2-4fcb-4a9c-a692-6d567d4b6598 CAID:CA4239675 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be663a89-8ada-4486-9026-cf71ad4845ad CAID:CA4239675 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe756581-ab66-4ef0-ae48-2a5263248aed CLINVAR:447402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c48037b2-6b80-44b7-ae8a-e55500c33f51 CLINVAR:447402 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a581d764-7beb-4028-879f-e0b79a3a5ad3 CLINVAR:418448 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 024b1a68-000f-4fd4-860a-98c6b3dc8b05 CLINVAR:418448 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc1e8968-9094-4c52-9414-0c2d03ef2bb9 CLINVAR:2709658 biolink:genetically_associated_with MONDO:0015974 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d66199a7-9060-4950-abf0-3ed8f59c1598 CLINVAR:2709658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 576633db-8b44-48fc-9690-256e7b980f84 CLINVAR:1005573 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e00d407e-11e0-425d-b3c5-791bba0e7dfc CLINVAR:1005573 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aac3eb6f-dce6-45b2-852a-c176912eca68 CLINVAR:65979 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34064d83-1fbe-4caa-a073-3d475d21eae9 CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d72fc92-1c2a-4d57-9ea9-f82f4068f726 CLINVAR:329073 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4c58f2a-6f28-4c1d-903e-81229bcbc98c CLINVAR:329073 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a69a5599-2af1-4f8a-9e39-1a32bc62c70c CLINVAR:2035105 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce4f5327-7ceb-4ad2-914e-6f8647c0561b CLINVAR:2035105 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd72603e-acf6-47af-91cd-e6c18ce0be87 CLINVAR:2865406 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c17df2c-cef1-4f05-ac11-9f50360ab825 CLINVAR:2865406 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0ca87e-694f-43e8-872c-d0f11f12cb1e CLINVAR:99219 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 415d528b-e8d7-4636-b0ff-ae8ee5c3a2dd CLINVAR:99219 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23708a1c-bb4d-4a18-b825-f83236f007dc CLINVAR:866229 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84f4795f-1881-4116-b30d-582d731726b0 CLINVAR:866229 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc2bf60-89c7-4881-9123-7f75bb7b1556 CLINVAR:1639209 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f46f008-ef9f-41a2-9197-491f25550a17 CLINVAR:1639209 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6af6d08-d692-40c7-a176-c6b74b8e40e6 CLINVAR:236129 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f574174c-9364-4c34-81d7-9729d4344144 CLINVAR:236129 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b84af473-fea2-445a-94c5-53872f8bc31a CLINVAR:2664262 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79fdc056-cd10-4677-be7e-b7378a5ee207 CLINVAR:2664262 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b68ec7d5-b364-41ee-b52a-be6321b54e18 CLINVAR:2151916 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 984afc23-dbfd-410b-887b-61a4db0e6a61 CLINVAR:2151916 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b015646f-833f-4e2b-a112-f4de8877e632 CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c95f02a3-555f-4431-bbba-49a301301e53 CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae0d96a-204d-469d-85af-c6968df0264b CLINVAR:2440386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a2ee055-52ff-4aa6-b370-c2e44a206496 CLINVAR:2440386 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d15f8c7-1cfd-48c4-b764-f4f410f9cd0b CLINVAR:52999 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6544dc3-3e1f-4b5f-ac68-2f28d8f0a8c5 CLINVAR:52999 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a72c5cd-0afa-430b-a3bc-15960334431d CLINVAR:517664 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba0733d9-a584-4268-a90d-72b3ae3109b9 CLINVAR:517664 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39c711d0-b7b8-4781-8b05-75d44d697e95 CLINVAR:635221 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a651ac4-8512-489e-ae69-e498b632def8 CLINVAR:635221 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36c91b31-a605-45e4-a192-6a6c47be04bb CLINVAR:53101 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18290a37-97c9-456f-86fe-825a28d0e4ac CLINVAR:53101 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deb4539d-7fbb-4dcc-943b-84dc03ecfb94 CLINVAR:67087 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0c2aca1-6a08-442b-94b5-0500160a099c CLINVAR:67087 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d345610-19e1-4ac4-9297-581cc82e7378 CLINVAR:52936 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 017e82f0-d129-4ea0-98a6-f15e024d2be5 CLINVAR:52936 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827d3a13-897b-4581-9375-e37b7765c93e CLINVAR:44587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8edbb172-df95-4bc1-8c6c-8420c276bd23 CLINVAR:44587 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54a8f91-871b-4af2-8707-6c5ba0cbf4e3 CLINVAR:1723651 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 839a765e-0c0a-482f-9057-a5ac83a138da CLINVAR:1723651 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b57a8c9-94f0-4512-bc90-639a467a3f3e CLINVAR:13343 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09fe3d98-8fcd-48c9-bcab-1385dbe53e21 CLINVAR:13343 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ed6cc9-6e00-4682-aa7d-f157db133eed CLINVAR:13342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0958c03-79ce-47f9-880a-d6bb201848e8 CLINVAR:13342 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06033755-9ecc-4792-9296-5a4ee60f594d CLINVAR:560190 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 359c0d0b-84e6-4aa4-a503-971a27d50ae7 CLINVAR:560190 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d563d06a-1f29-4ab0-a60c-4589d1667fff CLINVAR:2229884 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1556684-93d6-4666-b8b5-2984ef92bb63 CLINVAR:2229884 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9523cc38-d3d4-4db8-a9af-2fbafe3576f2 CAID:CA2580612246 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ada170d0-965a-4de3-9cd1-21e42f036b91 CAID:CA2580612246 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb0ddaf6-5aea-432f-a520-8098dd538d04 CAID:CA410676362 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ba96dda-9e9e-4759-8a44-429deaa6879d CAID:CA410676362 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 631ddc58-2a7b-43b1-9480-65856ca6581d CAID:CA2695224137 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cac6b3c8-5c31-4bb7-bf16-e35f9c6d59db CAID:CA2695224137 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3b63cdb-1cab-4d78-9222-d585107595db CAID:CA410676379 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 743c84bd-798a-4955-8df5-10049ba54335 CAID:CA410676379 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0799a4a4-0a40-4f6b-8bfd-63885309d061 CAID:CA410676935 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35c9c8e4-1bed-418f-8fbd-84945a4a137b CAID:CA410676935 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2bf757d-aec6-4293-8cf7-3ab1fdbacd58 CAID:CA410676943 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10c8745c-6c48-4c15-90ab-6af674fad018 CAID:CA410676943 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd24830-9ae5-46d0-83e1-8c1d8fcf9ad1 CAID:CA410677044 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8634946-e93f-418e-bad0-553abd93d404 CAID:CA410677044 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf9352a-891f-42ad-9f13-d021f6147c70 CAID:CA354447926 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60fab712-82f8-4945-a183-3c11517f0cae CAID:CA354447926 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6f58566-3b79-4fd4-9995-ba70637298b8 CAID:CA8314714 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3677db26-a16e-4d31-be4d-da1c97f78654 CAID:CA8314714 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b85abcf-07f5-4056-ac2c-d6166a3e1a90 CLINVAR:2570683 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8be0874-b931-46c6-a5f3-4d777ed232bb CLINVAR:2570683 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f91f22-8cfc-4832-9123-2332e3058201 CLINVAR:1330694 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 964db19c-fa38-47c2-a27e-7d3f652e5006 CLINVAR:1330694 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6037de0a-81a0-4158-a641-f6d95d2f346c CLINVAR:993126 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 093be39d-f472-48b5-a6ba-6cb4765d34fb CLINVAR:993126 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 470db401-e292-4be7-a5e0-bc1a963e0934 CLINVAR:801294 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f487b68e-d99f-4ace-9056-06f0b1397ca3 CLINVAR:801294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89fbd38b-3f40-4794-9fdd-65a9cbe2f1f9 CLINVAR:36294 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5af9967f-15e8-46ea-aee6-7ccd25c618f7 CLINVAR:36294 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ba7983-0b42-4c93-ab73-05d3ef4de8cd CLINVAR:869245 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd9ce3ec-8e7d-4a40-a041-a77838081621 CLINVAR:869245 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b3d423e-31f4-4b01-84f4-d4783953de08 CLINVAR:15447 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82c2920f-ab71-4195-8277-724b7acd2dd9 CLINVAR:15447 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d8c1c1c-f703-4f41-8ee7-c6c8a196c7ff CLINVAR:15488 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81736efc-df6c-4213-9638-44dea688fd8e CLINVAR:15488 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d13de0-3e72-4f4f-be2e-9c1f64b787f5 CLINVAR:15401 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7a15b48-ab2d-43dc-98c8-e1789cb85e66 CLINVAR:15401 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 116f9478-9d0d-4417-8c15-21ee30685fc8 CLINVAR:799593 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf2625a7-78f8-4ca1-bece-2b94a5bd9a43 CLINVAR:799593 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3413c110-743c-4741-8407-0c4071c16c7c CLINVAR:36312 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60d60aa6-467f-4440-9f97-2ffe2e32084a CLINVAR:36312 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 272d15a3-8520-436c-a0e3-3d9ad02407e6 CLINVAR:15464 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 948278d4-f706-4ee6-80b4-f6abc38460d6 CLINVAR:15464 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8865e8a-069e-4dce-b78e-a922f98d18ef CLINVAR:15458 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dee8fb94-2393-4864-a978-8a87640b9ff9 CLINVAR:15458 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe55e865-eff1-4124-8d83-096dc2ac6004 CLINVAR:15483 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfe463b1-24f9-4892-9107-911d8fd5b17a CLINVAR:15483 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f372af-3d51-44bc-825b-f655e8bbd9a7 CLINVAR:15457 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7ef5cca-2ed6-4155-9d2c-db1938438b10 CLINVAR:15457 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dde2575-5426-4e82-97dd-0c3544f91e17 CLINVAR:15454 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edb4c84a-d5e5-4833-99aa-e7fd40862acf CLINVAR:15454 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aebd3bd0-5196-4812-9806-1952064d75e9 CLINVAR:15405 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1c2acc4-6b83-440d-8d43-247e3a4703f9 CLINVAR:15405 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f868baf1-9094-4105-bfb6-30beff95dde1 CLINVAR:15239 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3d1e1ba-0c14-43ba-a6a6-4d4276bd52f0 CLINVAR:15239 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22cda5ef-4bc1-4cfa-aa5e-46249bdbe92a CLINVAR:15470 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22849d47-279b-4e42-b5f2-00d30004c297 CLINVAR:15470 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ce67f6-a223-4166-832b-e1bf25b6771a CLINVAR:1684030 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17a9c8b7-142e-46a2-9738-afb9356e41ea CLINVAR:1684030 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baebc565-db4c-446d-afc3-affa7163b76b CLINVAR:100409 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a8f6ff8-fed2-4226-b899-0017584628f5 CLINVAR:100409 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19472500-8279-445f-b8f1-49d8dc5aabad CLINVAR:507028 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3f7a515-8dc9-4391-9c30-1b0117c0b432 CLINVAR:507028 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 268b23ce-d928-40f1-86d9-ffba70ea2c0b CLINVAR:15692 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce104988-4577-4ab5-86d9-21bad2ca4079 CLINVAR:15692 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4d210de-1721-4404-8887-7093a9aa5179 CLINVAR:15624 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5608d672-1b36-499d-90e8-a22789ba16ae CLINVAR:15624 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dfc3498-7177-4196-9068-cb3048c6da08 CLINVAR:804215 biolink:associated_with_increased_likelihood_of MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a5b7195-b29f-48ae-ad09-b265e6b3c7d1 CLINVAR:804215 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa272bdd-bea0-4c73-beb3-3d76c2a7de15 CLINVAR:439112 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 302f66b6-768d-4ea0-9bfe-cc79fa30a939 CLINVAR:439112 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7779d1e-d094-4b06-9f6f-814721eaf40d CLINVAR:15647 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28264432-4eb4-4113-9cf7-ab30a319f185 CLINVAR:15647 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf04382e-a79d-4a2e-bb03-4f57e7fd2ac3 CLINVAR:439111 biolink:genetically_associated_with MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa3855ce-2a1c-4f89-a80b-89273de90adf CLINVAR:439111 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74a7190e-9570-45f1-95f6-ad73aed5c098 CLINVAR:869219 biolink:genetically_associated_with MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 635d8c9a-dad4-44c3-8c7f-4f48f75c774e CLINVAR:869219 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8167c027-f3cf-468a-b25f-f5d57bc6e9b0 CLINVAR:15651 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7132bd00-c7f5-4f42-9f2f-0d24b9c0b73f CLINVAR:15651 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fe2886d-33e1-48b3-b145-4b27addc06db CLINVAR:375746 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6f583fd-19e0-43ae-aa64-90cc17b46210 CLINVAR:375746 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6ade6b3-c31a-4c46-a7b4-fe4c610afb3b CLINVAR:15690 biolink:associated_with_increased_likelihood_of MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1c261f3-cf4e-489b-a5fb-0176c6c4cdad CLINVAR:15690 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f9ff06-2142-4890-b9b7-2ab7e0fbce6a CLINVAR:1209788 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4979e533-0462-4f39-94d5-fe4b0e096b43 CLINVAR:1209788 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfa50048-27b9-4a6b-af7a-e01419a4aaad CLINVAR:2675763 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f88f3c2-b764-47fa-83b1-023edede4415 CLINVAR:2675763 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d954dce5-5afe-4724-9a21-168d96290b9d CLINVAR:4032 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 763e68cd-8bce-4050-82d6-c788b1c8907c CLINVAR:4032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8292a50c-8950-4a7e-aac2-026e3aafe935 CLINVAR:370483 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8afd3861-389c-4828-8fed-de0db9e16acf CLINVAR:370483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce7e171a-e081-47ad-8e5a-8ca6dce4b366 CLINVAR:1190471 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72f09ef8-758e-4629-9ef1-fb9286644c17 CLINVAR:1190471 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f86e0fe-6dee-4795-9332-259364a630c1 CLINVAR:140553 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c609e584-44b6-46e7-938b-6b5d47422e47 CLINVAR:140553 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18bb72bf-a83c-4017-8208-d7ccbf708c9b CLINVAR:1323589 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9654bc5f-c7e0-41d7-874e-741fca209f61 CLINVAR:1323589 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c791f6a-718c-42f7-8481-17f92413fa22 CLINVAR:283179 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a893b91a-fd59-4e80-b733-ab322f174668 CLINVAR:283179 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e48ea7a5-656d-4021-942c-bc4018cf1728 CLINVAR:284122 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb86fa6e-a1e5-4f7c-b49e-00c3969da848 CLINVAR:284122 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0037b7ee-77c2-4dcb-97e3-a5866c887f79 CLINVAR:285927 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7794245e-4665-4861-b2e2-3612f6098505 CLINVAR:285927 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35533b95-e717-4c20-bdc0-4f82348a2fa6 CLINVAR:92407 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f41bd83f-3109-4903-9775-75fa48689366 CLINVAR:92407 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e12101b2-90a5-462e-bc70-8a6c19940113 CLINVAR:92414 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 889f48b8-6987-4170-ab23-0223940616ba CLINVAR:92414 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a62a0c46-d23f-4d0b-9537-e31df5f7fd98 CLINVAR:869485 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c28d5f3c-f0e7-4588-9275-13bc206578f2 CLINVAR:869485 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4016cf48-cf33-484b-8799-d6e1dbfabc23 CLINVAR:2165 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d59cac2b-dd90-41ea-b253-dd3cdd0e7337 CLINVAR:2165 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89acdc97-c691-4900-85e9-841c64a21a3b CLINVAR:197403 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e82cd0d5-765c-4a43-8ba5-cde467cec235 CLINVAR:197403 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113a8daf-cfb4-4a8e-9c59-cfde1892f8d9 CLINVAR:92405 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8dcad801-881b-48ba-8f0f-520191e618db CLINVAR:92405 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6270031-e65f-4f21-b9ad-8ce6a4a9746a CLINVAR:96685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c223db1-50ff-4e17-98fd-0c4307393cac CLINVAR:96685 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac248be3-a5c3-4d77-858a-5fbbeb1a7e9f CLINVAR:282681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f830c21e-5ee2-46f4-b7b8-e8c044ac4e14 CLINVAR:282681 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2f6ab80-aefe-4f66-a06a-16c2d3825454 CLINVAR:652571 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d2e9039-18b9-4849-8f12-bae69c842e31 CLINVAR:652571 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c76466d3-9fce-4bf4-aa3b-c09fda074703 CLINVAR:1180840 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7576fd7-6767-466e-aab7-48ecaed40b7b CLINVAR:1180840 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da665bca-05f8-4faa-a79b-77f1fa6994be CLINVAR:210563 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87830788-05d4-4995-82b2-29c1427dd33f CLINVAR:210563 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d63d90c-6318-46d5-9155-3848dc4790fd CLINVAR:128570 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27eda5eb-dde4-46d4-82e4-c4d08356c736 CLINVAR:128570 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5228a118-2b16-415a-a0af-a2ef74f9a058 CLINVAR:1407049 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dd7cba8-8bec-4a6a-98b0-75c35b8812f1 CLINVAR:1407049 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86b3f39-7c6b-4d64-a146-e714bb88ebdd CLINVAR:233573 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4717aae-8c08-4379-8ef9-7189fd4bcbf9 CLINVAR:233573 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe34fb6-f7b7-430d-951f-e3ea7d652af5 CLINVAR:3047 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1ce5914-5f24-49f4-a2f1-4f65f25d90dd CLINVAR:3047 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 337c8f60-3bc3-4ee8-b3df-fffda42ef664 CLINVAR:644144 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 737ff231-d993-4ab4-a88d-f1566f411a8d CLINVAR:644144 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6088a8d-fd88-4cc9-a29c-836020d96fa4 CLINVAR:490724 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8173d821-2f34-48c8-8446-53bf759cc19e CLINVAR:490724 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5822562d-678a-41d8-9796-117d0f735bfc CLINVAR:870645 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcd6da67-e0ee-4164-aece-49c54ddcf6fb CLINVAR:870645 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd17085c-26a6-4931-a2cf-dc48e110c614 CLINVAR:1054111 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5b1cb7d-9360-4e1c-9281-1761426936d8 CLINVAR:1054111 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b4ba55a-cd51-467e-8c86-9fc7a580720e CLINVAR:187501 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f12f9af0-a6b0-44b8-bc72-476056a34730 CLINVAR:187501 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c917c383-27e7-4509-bb4b-f83e8648b333 CLINVAR:490685 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 423438b9-4716-49ef-a31c-be24a67d9505 CLINVAR:490685 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479206f9-98fa-4d06-a447-0fbbdf6ccc0c CLINVAR:230152 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d840b13-1e8c-40c2-ae46-2da0bce30ab0 CLINVAR:230152 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a0fb72-2e79-4d8d-adc0-a6b66946493c CLINVAR:219787 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5242cb40-4a8b-4a9e-a17e-ed282881f702 CLINVAR:219787 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2cf44cf-cd69-42d4-8a9d-28596d3df0b2 CLINVAR:453684 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffd54617-25ed-4154-ab91-c9ed8ddf87e8 CLINVAR:453684 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c808cc5-2106-4829-8365-c94bec96f873 CLINVAR:140823 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52346183-644d-4382-8f4c-178e194e26d9 CLINVAR:140823 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c7545b-b729-4be2-a687-a917c11b71c5 CLINVAR:407464 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b8865be-adae-4be0-b992-52b105dbdf16 CLINVAR:407464 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cdd7711-45b4-4e8a-a0cf-599be245122e CLINVAR:3148196 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0cc327c-f8b8-4c14-b048-00cd244df618 CLINVAR:3148196 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4937c0c-1c21-4142-9d8d-e9be63bc3fd9 CLINVAR:1488412 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fbfb6df-eef5-4b01-b16b-edb15c8fe1cc CLINVAR:1488412 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63328595-59c7-4f88-a31d-5b80b11495f9 CLINVAR:304110 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd484ac9-fc79-42dc-a930-803d11fb9a5e CLINVAR:304110 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be42cd81-b641-497a-9892-e022f06cd878 CLINVAR:497131 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7a2c559-3ca7-4899-a444-edb74f3ac6d6 CLINVAR:497131 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d229e4-0288-4bbe-86c3-5190a3610756 CLINVAR:3677022 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b382807c-dd5b-4d46-a92c-b50ce412a651 CLINVAR:3677022 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef40f215-936d-4389-bf38-0a96db102b32 CLINVAR:94355 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7711b70-27d1-4b0c-bb4f-bc94d22daea3 CLINVAR:94355 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b609c58d-a4b0-4c0f-9414-0805a3fbd006 CAID:CA414435987 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66bc34d1-2b9c-42a7-8413-eea7cf216668 CAID:CA414435987 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31e8dcec-3921-4efa-a6ee-847a1ca47880 CAID:CA414435980 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bf5bbc2-415b-4ba6-bc36-3e2d6aa813c6 CAID:CA414435980 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d50aaf-a1de-4ac2-aace-94383a1d21d4 CLINVAR:618643 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1520a1b9-b62a-4690-b453-e61ac13ef99c CLINVAR:618643 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c14c2b-f5c2-42fa-8c60-3c6ea1746afd CLINVAR:425730 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb6837f3-9040-4531-809b-56f46e90f197 CLINVAR:425730 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5efd754-0802-461f-ae67-e7d03853b6c1 CLINVAR:425732 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77b210de-6ced-44ee-a91a-d882d17a2179 CLINVAR:425732 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48f274c5-4961-4572-9fac-657a7de19900 CLINVAR:1163208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67ea5bb8-8788-4d7f-ba1e-66a4c77fc43a CLINVAR:1163208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36aa4b2c-b6cf-4225-8f0d-e48e98899a8a CAID:CA414435594 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd118684-6034-455f-b88c-085a1ef876d2 CAID:CA414435594 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9128fcd5-299f-4a2a-a527-d3b5785f9b0e CAID:CA10567758 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecbc5c2f-f185-4677-bc67-581f8a809158 CAID:CA10567758 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1fb0cb3-466b-4bec-8bf7-3e0bfdcc2ccb CLINVAR:627400 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f948269f-8d7e-4680-8d58-60b26a1672b0 CLINVAR:627400 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9938cd92-28e9-4373-a58f-12eda37fe66b CLINVAR:548686 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df6d2bbd-6049-4b21-93be-c3528de50019 CLINVAR:548686 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 962ace6a-08d8-4548-aaed-d6c17db4d665 CLINVAR:1164394 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63a94202-8acc-4d22-b13b-8fa0d49f85ff CLINVAR:1164394 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0dff98c-b1f6-4d69-99fb-6451a9487c2d CLINVAR:11317 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93f99e9a-6a26-4367-a813-97c8e45c4498 CLINVAR:11317 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 364b4678-d570-49a6-9b96-64719f04b1a2 CLINVAR:92325 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03d78865-9704-4c0a-bb43-6a3ff0881929 CLINVAR:92325 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f27d4567-7752-4ab6-a76a-944c64547141 CLINVAR:218422 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 424ba5d1-27fc-4720-b13c-f99c8bd56924 CLINVAR:218422 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ef42c7-b9da-45d0-83b5-9a9928354fd7 CAID:CA386295701 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03232500-a1b4-4d80-a546-c80e3c07d3b8 CAID:CA386295701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93bf40ec-1764-44b6-bad8-61ba5c434151 CLINVAR:583 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34093cb8-07ff-4ea7-a197-334310b76064 CLINVAR:583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e9a710-53d3-4afd-a4bb-070b8eb38a97 CLINVAR:1504560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81d27446-49bc-414f-a273-7935a9b51476 CLINVAR:1504560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db080de0-6a39-4962-9959-7210d40d4091 CLINVAR:449353 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a9e5580-f46c-4393-bc8d-0d67830c7a51 CLINVAR:449353 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56c82649-063c-4cb7-b467-6464c1cb904e CLINVAR:665836 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b7710e6-39d8-40e7-9c40-709963e28eaa CLINVAR:665836 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f23b1a0-507b-46ac-ac80-be6c6dd17451 CAID:CA415098539 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14e27fbf-83b4-415d-8959-e066a77a2151 CAID:CA415098539 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 454b3c3e-1555-457d-9e94-46fe02c557c8 CAID:CA415099400 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f683d2e8-06b3-47af-ab67-24d142260375 CAID:CA415099400 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52d78d4-963b-4621-af1f-87fb79827d50 CAID:CA415100409 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f302e89-9bee-4358-a25e-e31d2aff4856 CAID:CA415100409 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1644aede-8ff5-4666-a0f0-32403c1cf532 CLINVAR:930240 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f150e28-5884-481a-a991-36dd1913759d CLINVAR:930240 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af67b053-7f06-4716-91ef-87a8d40645d1 CLINVAR:11310 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen add0f191-872d-42f0-84f3-14909123d9c0 CLINVAR:11310 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f0e25d-0a65-4229-910c-d190a5601298 CLINVAR:11312 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d2038d6-bc60-4ad2-9baa-ec445d542cce CLINVAR:11312 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 168e7184-f807-465f-a5de-a5658b952455 CLINVAR:1357576 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f804a03-7eda-49b0-97ae-a3bcf0679591 CLINVAR:1357576 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fccb88e2-abb5-4094-a029-a5fb482ca4f6 CLINVAR:458646 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36749bed-abbb-4542-b4a8-1ef140b39752 CLINVAR:458646 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2d9ce84-b155-4997-a03d-2c692337ef28 CLINVAR:872971 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4e579df-49cc-403e-a996-505d5f7e7cb6 CLINVAR:872971 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d100d2cb-4e0c-45a0-9c55-550bc724d872 CLINVAR:974948 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1683cccd-aa68-4a7f-89d2-21d5f2352a7d CLINVAR:974948 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f10d9253-157d-44ca-830e-3fdff080d58f CLINVAR:1172887 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5d4f57d-8726-4e9d-86ca-91209419774b CLINVAR:1172887 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b3c9f70-32c7-4683-96a1-7ea282854cd9 CAID:CA341292216 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8c663f0-7512-49a3-a4ad-78ba88eb0477 CAID:CA341292216 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3643df1-2678-4939-b914-72b84756cc33 CLINVAR:2021273 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 878c4503-a248-4e11-b863-2eb758304081 CLINVAR:2021273 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d4d08f2-0465-4601-8d72-966feb8ad8c9 CAID:CA341289425 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb68c4ae-14a5-412d-a578-51708f236d44 CAID:CA341289425 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7a6fd7-c31f-4f4c-8383-ec26632c126e CAID:CA2588340115 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26ec187a-1caa-48b6-a416-2ea32b01fb58 CAID:CA2588340115 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f35e2aa-dc50-4d5e-8dea-c5e2b8d7dc3b CLINVAR:4710906 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54a0f498-72f6-4c21-b921-434dec0f5be0 CLINVAR:4710906 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45552bf6-dbda-474b-ab36-87e58e48c498 CLINVAR:837244 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen daf6d791-2a6b-467b-8039-270846acbc8d CLINVAR:837244 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9410cfd9-781e-4722-86ce-84bfab03b241 CLINVAR:3724631 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb818cc4-10ee-4e75-a59f-0d14136a02b4 CLINVAR:3724631 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3185a881-c347-4b04-b17d-d533a5d824f2 CLINVAR:914586 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfd5ca04-de7d-4f17-8e95-e091dd5c45ae CLINVAR:914586 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03570e3d-c049-4d67-a89f-62bf26bb60f7 CLINVAR:420900 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c052bcc1-ae91-43da-9b00-d31913d3e2b9 CLINVAR:420900 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e111a7-ba9d-4da8-b806-02f29b9baf86 CLINVAR:528335 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29d46e05-7675-422f-8280-511bb5bdabc7 CLINVAR:528335 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 895d5f56-7e64-4ae2-bbe5-f95f85c87308 CLINVAR:1410844 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84ee06e4-bb48-4e37-9779-c15ce8daf3b0 CLINVAR:1410844 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a8d810d-05fb-455a-b15c-87e5b1692095 CLINVAR:851448 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9347d857-d4f9-4633-ac3e-0af3eab1be6e CLINVAR:851448 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5242ecf5-3af3-4010-a4f9-21afca147540 CLINVAR:1420866 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2518555e-cfc4-4b83-8b77-28c0aae78ec4 CLINVAR:1420866 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8efeee33-d0bd-453b-9dd0-2a4fc62141f5 CLINVAR:219532 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 411f8303-4b37-4b01-b81b-eed0c13cf095 CLINVAR:219532 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30665b0f-c2b0-4add-a5ec-3cb8ee38651a CLINVAR:934410 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9325b9b5-cd17-49de-b0a9-a240924772a0 CLINVAR:934410 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff38b1d2-804b-4be4-97e8-b194846cc37c CLINVAR:480759 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a04f2f7-a434-4d12-8a60-56852524fb73 CLINVAR:480759 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5bf06d4-f414-4763-a73c-77136359cabe CLINVAR:486555 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c7b6452-913c-4241-bbb6-17f9a16a426d CLINVAR:486555 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51415a6c-028c-4724-a558-4259f76674c3 CLINVAR:988616 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19effdd3-fc79-446f-ab74-09f1861c004b CLINVAR:988616 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e76eb7b-8b94-4789-9fb0-4e837277c302 CAID:CA2695213741 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8a96877-4731-47ca-8ba2-a240c8048a27 CAID:CA2695213741 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b543d3b-6c57-430c-9766-a45ffb1129d8 CLINVAR:1072413 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb48988b-7db9-4e79-b2f2-a1e8b251b54a CLINVAR:1072413 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 422d115a-4956-4396-abdd-4e6a33c9f613 CLINVAR:13148 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb97ebd5-fa85-44b8-af45-5aab1350b7a9 CLINVAR:13148 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c452c1-c5b1-4427-a33d-0253da96686c CAID:CA376060150 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9ae27f9-0390-43d4-bf67-f4959c6c51ec CAID:CA376060150 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1b1c526-6884-4838-91c2-8ccaefe66e25 CLINVAR:624584 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e90ac61c-cc34-48f5-925f-08ca1bcb411b CLINVAR:624584 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f556cbd-4f98-42bb-b359-79022e753838 CLINVAR:488725 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f58b984-fe9b-474f-8909-35a9a9fdf454 CLINVAR:488725 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aac18403-d9de-4ac2-bfec-cf07c95fbc41 CLINVAR:2943710 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0091512c-d7c0-4bd8-98ef-4465ec4b6310 CLINVAR:2943710 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f175bd-6cc9-49c7-95fd-5f16cb4dd9b8 CLINVAR:36714 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91a49b7d-7a05-46ee-8702-c2f252b8f524 CLINVAR:36714 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b074691b-a899-4e42-aee4-e4a7ebc2d54c CLINVAR:13146 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ac5b63d-9964-4db0-9ed4-04a69f58a6a3 CLINVAR:13146 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d34b9b-8219-46d5-b49c-d4d12e2393fc CAID:CA386958852 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5b1fa6c-c3db-41a3-aadb-aa0fb58d3eab CAID:CA386958852 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d51cd3-b4fd-4793-abdf-cf9aa6b06fac CAID:CA386966502 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d27642a-73dc-457d-925d-6b52a6738737 CAID:CA386966502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f7f4de-8625-4bd3-b436-5fa2a4bf97de CLINVAR:562363 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0f4d482-4ae5-4aed-9887-4e3cf6fb7beb CLINVAR:562363 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c18170c-277f-46e2-8db7-0a5c4920e015 CLINVAR:972775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1732920c-190b-4bb4-8c43-ac3e21f1231d CLINVAR:972775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 101c3b94-cb7f-4773-b73a-f035865da69f CLINVAR:804857 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e60cab80-f6e0-4e4d-8c79-32f4fee245a2 CLINVAR:804857 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0cb397-95fd-4227-af9a-3c1dcb27f956 CAID:CA4239432 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9b8e4b6-8a2f-459f-b2f5-5db9250eaa44 CAID:CA4239432 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2fc071f-7884-479a-b605-7a239acaa7cb CAID:CA4239511 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea6dcf4e-34cf-428d-aab6-d2f73e257b6c CAID:CA4239511 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92348f55-44fb-4086-9462-06ef24e5fd5e CAID:CA4239428 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1d3e096-fe1d-4f9c-9aa8-263f67caaa2c CAID:CA4239428 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1211bef-1a6d-4a42-858d-d71e126f869a CLINVAR:1770532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26eac903-3315-48c1-93e2-469747164232 CLINVAR:1770532 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b4116b9-823f-47de-910d-49e90611af4e CLINVAR:2734986 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8775316c-e13b-4f21-9fec-b819fbc239ca CLINVAR:2734986 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6b3218c-3577-4769-8e96-7f3b2611540e CAID:CA367396913 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 658bec91-c9ce-4737-9cc8-0dfc417fcf26 CAID:CA367396913 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd5ec70-25d7-411c-af8b-259375bff6a8 CLINVAR:1761162 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98831799-12ca-4fdd-97d3-c2f19cae1341 CLINVAR:1761162 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e41b6ba-9dd8-4490-8d0f-247ef3ddeb57 CLINVAR:3720744 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66616cdf-baf6-4009-8916-98b55b1f0fd7 CLINVAR:3720744 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d82298-a646-444c-a54f-ea2d0f08440d CAID:CA367398185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06b0c70e-587e-47d4-8dc6-b8b948f03f21 CAID:CA367398185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54bc319a-7349-42c6-a383-47d5546111e5 CAID:CA367398898 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c9a7155-a135-493a-97c3-8c4b090f7564 CAID:CA367398898 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7aa42a2-aff4-41aa-97e9-a85407400113 CLINVAR:3030720 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26ca4dd5-d42e-4fef-a46d-2468b265e924 CLINVAR:3030720 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81b86640-3400-492a-8779-b117a26991bf CLINVAR:918070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 291fa2f4-2925-4947-bce7-63003cdbbfcf CLINVAR:918070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac94e05-9f1d-4d64-9d75-278c9eeead22 CLINVAR:635988 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 246bb237-3dd8-4454-b080-e44c9986b02f CLINVAR:635988 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8340ce3-32b4-45f1-be34-95555c802359 CLINVAR:92870 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3c80dd2-c576-4523-bfa8-e29dc75bb506 CLINVAR:92870 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38071e7d-19d6-4947-b617-5695a38cb810 CLINVAR:236114 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6782eb0d-a0d4-4c47-817e-de6327f5a3f6 CLINVAR:236114 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e05082d1-2447-4407-9161-9650d1148973 CLINVAR:666959 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43f26059-9cc5-43b6-b425-4faec327d04d CLINVAR:666959 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7751c4bf-5c4b-46a5-86e7-4338ed77bd2c CAID:CA414435596 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 184630e9-a80e-4f4f-b7e4-a864e14061ae CAID:CA414435596 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53294a75-4c4c-4f1e-bc59-317bddc8ab19 CLINVAR:916723 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20d26d3b-62e8-4f05-b907-e2d1c20c84e6 CLINVAR:916723 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18bea825-f801-47ea-9fc0-290c73c8dfe0 CLINVAR:1517581 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 696e7969-0310-402d-b88c-f2c1338c1efe CLINVAR:1517581 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14a49c9-1a70-401c-8508-4b65313890f1 CLINVAR:134539 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4671da7e-be67-40c3-8647-5f540f04e8f3 CLINVAR:134539 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33daf1b7-4ad6-47a7-ba3c-d02843664859 CLINVAR:2738034 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 530fa657-c600-46c8-bcfa-0f25868c9cea CLINVAR:2738034 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0941c423-1eb2-4b7c-824b-9fde368e06d0 CLINVAR:289644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23de5d3c-d8d1-4f58-b730-6af99773349d CLINVAR:289644 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52fa4256-5cde-4e88-9884-dd899d1c1a73 CLINVAR:2441110 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f01702aa-a85d-48b2-9a2a-d230772681c3 CLINVAR:2441110 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4be9e01b-9f9e-477c-bc73-7d115ab6645c CLINVAR:1448363 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen deaad79e-748b-476d-bef6-b6052fde2648 CLINVAR:1448363 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7abad349-95ec-4c35-9929-758cdf60728c CLINVAR:285200 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a3d44ff-28ca-437f-97a2-2aba8f36170d CLINVAR:285200 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ed86cf-4165-4647-87e4-b5741a907ed2 CLINVAR:290515 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7da1d034-f5ef-440c-85a7-f17a1ad95cf5 CLINVAR:290515 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15a4afb8-3a63-4d0a-8463-e0978fe73181 CLINVAR:284385 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa6818bc-4c1a-431c-9392-c6003c29b39c CLINVAR:284385 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987138ac-7429-45f1-9994-ded20a65e35d CLINVAR:285460 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f644d7c0-bab3-4a84-9fac-34b721abba06 CLINVAR:285460 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee027f58-cfd0-47ae-b5d8-d262c74b131f CLINVAR:198690 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd98725d-0569-4a82-bebc-94add729bd3b CLINVAR:198690 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f2ced5-cce6-489f-9908-ec3f60a2ca90 CAID:CA2695218823 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99d3de5b-d66f-46aa-b8e2-20154dcd4c33 CAID:CA2695218823 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6318c75d-7849-4fb7-b8c8-1f672515bb67 CLINVAR:166789 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef381e68-2f88-4f7a-880d-8ef1cb0f7cf6 CLINVAR:166789 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d14662b7-dd89-4472-b1eb-23d68b8182e4 CLINVAR:286743 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ea292fc-3fea-40c0-8e93-c1ba9b2fb2ed CLINVAR:286743 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc0c587-4ee4-4ef7-ba58-b0bcc8781302 CLINVAR:498216 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8910632b-caab-4bf5-8ee0-9d349905057a CLINVAR:498216 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de881d36-a62d-4165-921f-2bd3fb9d16a3 CLINVAR:2674980 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aeb84858-58cc-4e6a-ba88-54b6bda87e37 CLINVAR:2674980 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d4fa387-9d22-423c-a9f0-b9f94f435954 CLINVAR:282624 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f85f5d4-82be-4cfc-b3f0-8f7d4797b539 CLINVAR:282624 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b75dfb0-6c07-42be-959e-65767a35c172 CLINVAR:6671 biolink:associated_with_increased_likelihood_of MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e920c50-e3f6-4cae-b1da-a1c675905fa9 CLINVAR:6671 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cc70aca-6b84-42bd-b301-2e529836f537 CLINVAR:566085 biolink:genetically_associated_with MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e8352db-1e5e-4297-95a1-9e85e00f52d9 CLINVAR:566085 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6562436-17bc-46f6-80d3-87496f2dff2a CLINVAR:662490 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c1989fc-b81a-4082-8eab-b0050092b0cc CLINVAR:662490 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0f2ac6-ae9d-4487-8f3a-cebc9b26038b CLINVAR:282646 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c54f49e8-ee6b-48d2-9716-6faa3af9bf1f CLINVAR:282646 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 110df40b-b1c4-4f07-b1c2-c026a1cec815 CLINVAR:195450 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea815a3d-ff08-440c-91c2-7525a7cd9551 CLINVAR:195450 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d71f7fe0-37c9-41bd-a92b-cb8bd533b779 CLINVAR:284807 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e3347aa-f456-40f5-9341-e4af008523a3 CLINVAR:284807 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be21ef35-aca1-4b65-ac3c-8399173ac6a6 CLINVAR:289098 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a87a4dc-7417-4d3f-b621-e0112c025ae5 CLINVAR:289098 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d84bbd54-1cbc-40f4-84b0-613a753b0aa5 CLINVAR:167677 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07f60d85-bd09-435b-86b7-b355cbe59a04 CLINVAR:167677 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df0a2ad6-c472-44b9-9666-28054a844987 CLINVAR:2009 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5894e19a-07eb-456d-8092-f934ab1a7eb7 CLINVAR:2009 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b4914f0-6f1f-40ea-87f2-9bf23a162682 CLINVAR:42035 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3c1a612-8d33-4857-8800-75f1045a2a58 CLINVAR:42035 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da18ae58-b557-4bdc-a624-b9ffdfb3b821 CAID:CA387502551 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4eb17895-464e-48ad-99d1-0be4ff915f71 CAID:CA387502551 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8834dc6-3574-4937-8be8-04b7b5b12571 CLINVAR:281148 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cee91312-a385-477b-8c82-4fcf2e9159bb CLINVAR:281148 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ce8570-3df3-4b80-9307-d128ad135634 CLINVAR:813953 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8dda51d2-7fa6-4de0-8466-6dd5249a0521 CLINVAR:813953 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 328a9d41-81c5-4b4f-96d7-d2018c582830 CLINVAR:498275 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1df56acb-be59-40eb-b68c-d18db150edfb CLINVAR:498275 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27f6efdc-44b1-40fd-a2ff-cc6a9fbb5ce5 CLINVAR:217150 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cb86c83-d311-42bb-81cc-3afb5c7edb5c CLINVAR:217150 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c499781a-9573-4aba-ba0c-be99df1937f1 CLINVAR:1052453 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54601dcd-dfb7-4193-8a52-f6cf10caec4a CLINVAR:1052453 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec705cb2-7c44-4ad4-b8d9-9afde3babfd7 CLINVAR:659203 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc789616-de25-48ca-883c-ca858a053b11 CLINVAR:659203 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d04c022-400d-478f-a205-689c194c1722 CAID:CA400180431 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a572ae09-c004-4ec2-86b5-1ecd8a9bf57c CAID:CA400180431 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa36cd5-8c5f-4d1d-b3a5-dc21d451c4e0 CLINVAR:193037 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ce5d050-8690-490c-affc-5c7c6a6c3dee CLINVAR:193037 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d410b2-cadb-4911-b816-164dda258450 CLINVAR:284685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cba36578-349c-402f-8296-7e7fa71709e4 CLINVAR:284685 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80b689c4-19cf-4ce3-96d0-187527c911ea CLINVAR:284708 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 054fcc9b-8468-4339-aca0-e1f2ad2daa65 CLINVAR:284708 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9790cb0-eabc-4646-b0bb-2a7d314748ed CLINVAR:9435 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3594f2c0-71fc-4a4f-a33d-e0df1c5a08df CLINVAR:9435 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845319e7-f173-4c21-a427-b74665cbb46c CLINVAR:286025 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4b86c92-19c3-44d2-a228-98f10045b99d CLINVAR:286025 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c1449e4-31d4-4d1d-b6d5-fcbe0ad85dec CLINVAR:282512 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5123e1f1-d013-485f-b925-43b39990c96b CLINVAR:282512 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b835b065-e486-4474-b089-8c11985734e4 CLINVAR:617543 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee6c966a-0cf9-4154-a9ca-b9deca3a3004 CLINVAR:617543 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef51764d-dfc5-46c3-b486-4e17c3bf54e8 CLINVAR:813972 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eec640de-4474-4550-ab27-15e1bb88a77c CLINVAR:813972 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a995ff42-6bd6-4f15-9d20-47b6af35fd10 CLINVAR:94363 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d67150a8-ded3-4264-83c4-ac015323df98 CLINVAR:94363 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ffeea91-58ae-48e5-bab1-d040275bc235 CLINVAR:2116162 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbc4eb5b-204c-46f4-b110-18877d1e4456 CLINVAR:2116162 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c34cdaf9-608e-49a5-81e2-1cd972f79678 CLINVAR:282408 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44ba8ed8-79cb-4183-8f52-1f581c778a41 CLINVAR:282408 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21fbfbda-16f4-41c9-86d4-88ba1ecd75d8 CLINVAR:284515 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b344071-897d-469a-9a4a-81a09243782c CLINVAR:284515 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1846b01-283c-4e71-bfab-52a37d04c309 CLINVAR:2429327 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bac9bb2-4bca-4fb8-a783-84c888acf447 CLINVAR:2429327 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c243951-4044-4483-a30a-6f75558a59fc CLINVAR:289794 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a5f1c85-284e-4026-8f7a-e8976aae89f7 CLINVAR:289794 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 766c9328-e414-46b3-bec5-439b1e9ecc81 CLINVAR:550333 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26312653-532c-485f-97d8-6aae45c12608 CLINVAR:550333 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdfb99e5-5396-416f-bb07-7880b7ec6427 CLINVAR:471337 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79c12f2d-2672-47e4-a555-f2619b7a9b53 CLINVAR:471337 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 637862d3-0467-4699-9c8e-0308d2a53d3b CLINVAR:392545 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc50631f-c0d3-41e0-9af5-7ee109b9acfc CLINVAR:392545 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f625a8-1501-4403-add5-2c1b674d2551 CLINVAR:2006 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52690290-66f4-49fe-9ef9-36ffa69fc0db CLINVAR:2006 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee3a4af8-e1c2-4f76-84ba-f1384f3f510a CLINVAR:2506158 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69726f2b-0515-45cd-98da-2d99fe208bfa CLINVAR:2506158 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76639ba0-25fa-4061-8538-96ca3eb5cdd0 CLINVAR:265487 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee5feb9f-7cfb-4469-b654-650126fb42a7 CLINVAR:265487 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78bed4ab-d72c-4fa8-8f0c-974a65fbc1da CLINVAR:812806 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d40eceda-2d33-4548-acb1-11061af4c638 CLINVAR:812806 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bf14ae2-4ac2-47de-92e1-180aba0c8f0a CAID:CA2586965542 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce639a92-7cc8-40d7-95b1-1169731d8806 CAID:CA2586965542 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da501c76-9c43-4dd0-aac0-84c6ef539504 CAID:CA341286822 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07312311-8064-4cc2-bf89-1eaf50e7931c CAID:CA341286822 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01792354-9869-4f63-b698-e8ed3d7d3774 CLINVAR:867010 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b4304d9-8b62-4645-902d-c8ad190eb234 CLINVAR:867010 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90868ea0-b429-4474-87bf-b73a1574d75f CLINVAR:2114998 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ddf9a53-1ab9-45ab-a9da-d8715ba000f3 CLINVAR:2114998 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84e6020d-6884-4056-b504-78e7ed247191 CLINVAR:2003663 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee4d2e0e-5847-42b6-8898-e19ca8080d7d CLINVAR:2003663 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e85d8ba6-5449-449a-b0c2-50e3eda9a443 CLINVAR:1367009 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37a0dc19-6011-40f2-996c-28fde7907ab5 CLINVAR:1367009 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d19a5266-cd55-4557-a862-c3812fa70f7c CLINVAR:841821 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a8e5bb7-c9d4-4c84-be91-23fd71e9817e CLINVAR:841821 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51bf4800-8472-4d25-b6f7-8ee1b7aabeef CLINVAR:866026 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ba08ab3-c34d-4664-a129-923df8873657 CLINVAR:866026 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18532d3-8d9a-4177-9c92-4e5602a00752 CLINVAR:1559116 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32abcbcd-9e74-4279-9adb-f8bc2443d13f CLINVAR:1559116 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2090e3e7-fb6c-4c70-8ed2-670d60adeb98 CLINVAR:2008480 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bc30f7f-40f0-4682-8bb2-bd8052f2424d CLINVAR:2008480 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77afada-2fe1-44f9-b5a9-36030bd22c1e CLINVAR:839263 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27a1cdd4-df12-4845-b010-4e0c89d112c1 CLINVAR:839263 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c078d19-9689-4992-8877-55e44fb5f85c CLINVAR:806157 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f9eb185-c8d2-4675-a1f3-1e9b0bc229dc CLINVAR:806157 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8819fb94-3f6d-4af2-bbe4-1010427ab122 CLINVAR:639949 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f5b414d-df1d-42b8-a323-869720e482a1 CLINVAR:639949 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b746fdae-1c3a-4352-9e5e-f19ca17c9c49 CLINVAR:932785 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e09abaf-201e-4522-a4d3-cffb0873da89 CLINVAR:932785 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db71c32f-5bc0-4e16-837d-19bc5da7ed20 CAID:CA341283196 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7f52ad5-c815-4e1f-8463-374d7fa5261b CAID:CA341283196 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95acd8c9-5479-4334-bd44-5054707639d7 CLINVAR:618507 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94efb57f-318f-4cc7-b8ee-3fbf1468c27f CLINVAR:618507 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57ab748c-4c2d-4bd4-a6c1-dc95ad713193 CLINVAR:1454452 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0867bbf8-9a39-43fa-97ee-55f60ba0aff4 CLINVAR:1454452 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f6680c-85c0-4cfa-a15a-c98660fec2d2 CLINVAR:2831012 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72c3c9ce-b66f-4f42-b846-abf48c192ccb CLINVAR:2831012 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb9d8af5-181f-438f-b543-9181e9b85766 CLINVAR:2203496 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfac6751-e369-424e-ac17-02756f8ea08d CLINVAR:2203496 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2431f07-e3e6-4f84-8ee0-ecad6250c3c3 CLINVAR:928997 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f1dadc7-05f7-4b05-9d95-afaf79d6158c CLINVAR:928997 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c7caa7c-3207-4432-9082-25827cd21f27 CLINVAR:550010 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc1efe6d-71f4-45da-82c2-e6f712ec39c9 CLINVAR:550010 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f264a2b2-58ee-412a-8fb5-bf351f9f2e44 CAID:CA658795277 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5369c524-b343-4970-badd-de109164351d CAID:CA658795277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679dab03-5c6e-445d-b398-da14de11d24c CLINVAR:92469 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f684adb7-1b46-44a8-b4f8-e1f0adf714d7 CLINVAR:92469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93c2f774-3687-42b5-9302-fd414854fc71 CLINVAR:972773 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d61ede9-ea04-4d1d-ad82-15e4c4bcfe65 CLINVAR:972773 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf7b7537-2625-42be-a8ac-4e8cd2a2feeb CLINVAR:2675751 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b149d8b-f270-477f-9947-83ff7d13d286 CLINVAR:2675751 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d2e111-f38b-4fcc-ae5f-305634950f46 CAID:CA355965964 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5e2ef88-61ac-4b40-9526-08d67ed1b06f CAID:CA355965964 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dba4912-54ed-4184-9deb-ed3b1788b72d CAID:CA355961522 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a78cf73-077d-4963-a91c-9cdb0897852d CAID:CA355961522 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f35651-b7c3-40af-8af4-803ac94f9fd8 CAID:CA341290608 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa4c703a-9ede-4c47-a6ea-266bece069b8 CAID:CA341290608 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee8a6b94-e2d9-472b-856d-d0d206ef9fe6 CLINVAR:866538 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acefb240-6a86-49f0-9039-233527545d17 CLINVAR:866538 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78a0dd56-037c-474f-942a-4f7cc05d90ac CLINVAR:4745458 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5064be48-6b33-4f28-bd98-d91a4fb2046c CLINVAR:4745458 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51f53e27-48f9-46b4-b520-3f18dec11bdf CLINVAR:99448 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b5efa93-8511-47d8-a578-408f35508b6b CLINVAR:99448 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2591e793-485e-4881-b173-8130fb4704c4 CLINVAR:99265 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a9d61f1-ed9c-4557-892b-48868c022ef7 CLINVAR:99265 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b74c3157-b571-46f5-a828-487c5db5d240 CLINVAR:377402 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40e82273-4959-4200-aa03-4fde7c5a6011 CLINVAR:377402 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f88c6e77-1b6b-42e2-bc6f-7f7c78df7985 CLINVAR:1048143 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5eb906f1-fbf6-47ff-b349-77a07b18f140 CLINVAR:1048143 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54eea181-06d6-4911-95d1-701d45a2ece0 CLINVAR:1477198 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35c792c9-a7cc-445a-8570-8132f976b1bb CLINVAR:1477198 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b62d50c6-a2bf-491a-bb56-649b53dff8fa CLINVAR:1481126 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 357c4a4c-48f8-4350-8df6-5b8a2a229ccb CLINVAR:1481126 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb01002-2735-4097-a750-7cec196f77a8 CLINVAR:1410089 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 111d6c88-afae-4845-af98-e6c314b8a4ed CLINVAR:1410089 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3867981-5bfb-4351-9b7a-f53117a6dbd8 CLINVAR:957296 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65574c71-e049-4290-a16c-ea6bb3d45cb0 CLINVAR:957296 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 796b2eca-6b6e-448b-9ed3-c44dfa86d00c CLINVAR:866298 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38c9d851-cdd4-4730-8d53-2423af741c26 CLINVAR:866298 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8a32f26-c53e-40a3-8fe2-c8423adde02e CLINVAR:282260 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2dae15f-7d6e-4d63-92e7-a51f367a677a CLINVAR:282260 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 062014b3-80d9-493a-9472-6581ddc56aab CLINVAR:932860 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad9a0774-63e8-4fed-9223-798c85171e92 CLINVAR:932860 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 604e1e86-0b03-4b35-95d3-9106bef0f584 CLINVAR:3948835 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e094f7d-47cf-4feb-b1a6-b2dbbbc6353d CLINVAR:3948835 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840b658f-c246-470c-ac91-7eac5af72181 CLINVAR:3336849 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bf84afe-e4a5-4e42-a087-5d48a51f7554 CLINVAR:3336849 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fff49a5-bab8-44ff-bf18-b6bd9a3ebf12 CLINVAR:4158196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7b537db-ad4d-4962-a571-6c2ce0ce3149 CLINVAR:4158196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48bbfd21-0bac-461b-b87b-5ca1ec8f7f6a CLINVAR:4158194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9deaa29e-d96d-49a9-92d7-84268f7167e1 CLINVAR:4158194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b4e3a9e-5601-499f-ac4f-544582974227 CLINVAR:4158223 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c58d804a-88df-41e9-9752-67d4da756299 CLINVAR:4158223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed5d4c2e-d36d-4188-820f-8e758e1c46c0 CLINVAR:4158221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c3258e2-5afb-45c9-9f03-930fb0c98ca5 CLINVAR:4158221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac9c9a0f-339a-4414-a05e-b42da318e1ac CLINVAR:3948885 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b774b452-26f4-4e6b-bea2-765b208e7c24 CLINVAR:3948885 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b930415f-d31d-4a65-b78b-86dbb33e10c4 CLINVAR:3948886 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 121bb012-0ea0-4c0a-8e46-a422d121e86b CLINVAR:3948886 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03d3d902-2bed-40d3-804a-9bd2b69bb99f CLINVAR:3948888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1a8d23d-7d2a-44f0-8f9b-189ccdc6e182 CLINVAR:3948888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f27dd7a-a042-46f2-b403-fce4a3f6e54b CLINVAR:3948882 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e542e97d-8b0a-4116-ad6c-19e932883e5e CLINVAR:3948882 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3038af29-667a-43e7-a3dc-766dbcf1b37a CLINVAR:4158200 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c80168a1-654e-465a-a89a-fc4853c2fa3b CLINVAR:4158200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57e96dac-46d4-4d86-8763-76329fc8ad35 CLINVAR:4158197 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 270dfeaf-29f2-4e0e-9221-b22ee67cf65e CLINVAR:4158197 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89f9f870-2980-4e1e-b852-edd0f44cb753 CLINVAR:3948880 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b020551-ea77-4050-9161-d8210f48cf54 CLINVAR:3948880 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e59e44-5584-4832-9259-c94edb3ecb95 CLINVAR:3948866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1733e40c-7bf1-45de-b272-2ee9d22eac6e CLINVAR:3948866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c130c4df-f427-41aa-8a88-a56ba4ee0db7 CLINVAR:4158177 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 457c345e-e86f-434f-9d3a-16733811c689 CLINVAR:4158177 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d936e1a9-4012-41a6-9d2b-270875e23519 CLINVAR:3948897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8680c16a-5198-4eb5-ab2f-3de78cf1c17a CLINVAR:3948897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be26e72-b668-4dc5-b395-736e56688390 CLINVAR:3948875 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a31bf30-9554-4ea5-8a4d-0936e7fba375 CLINVAR:3948875 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf929aa-96c2-4c17-9f7b-552d28c56264 CLINVAR:3948893 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20ae6bec-7742-4519-b038-e14e546b6b9e CLINVAR:3948893 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab68462-de5f-422f-a7f5-d0e07ffaf092 CLINVAR:3948827 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f7e317f-c5d9-4a77-bbcc-e4d8d02c3aa2 CLINVAR:3948827 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9749712f-dac9-4603-b684-973ce4b9e1b8 CLINVAR:4158166 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed41f463-ae08-44cc-bb52-31cea28f518f CLINVAR:4158166 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e627c4a-8bc0-4aa4-840e-66aad1b9dd3e CLINVAR:4158210 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1715eda-c595-45b9-bfa0-3c0d18db9566 CLINVAR:4158210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5769fbe5-1a09-495f-9e69-efbfd5c16bb3 CLINVAR:4158192 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05af6d05-534a-4a03-a212-c31c86c25d0f CLINVAR:4158192 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2007c93-a5bd-4d02-9e4a-50c860995767 CLINVAR:3948861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34ec1cd0-df0a-4433-9159-154015810c96 CLINVAR:3948861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e5d3f95-4d6b-490b-b055-b7229b44c8f2 CLINVAR:3948876 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63028e8b-7622-4773-a8ea-b84aad2f24a2 CLINVAR:3948876 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd26dc80-63f9-4a63-93ea-8d865c36c520 CLINVAR:4158182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3516f9b-f094-4690-ba69-ef96536f388f CLINVAR:4158182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43069804-6798-4405-a97f-90b03279407a CLINVAR:4158181 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8860dcc4-6186-4bde-a481-ce01fd17ed6b CLINVAR:4158181 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed7bc469-8c1d-4fff-a6c0-7629f9de3898 CLINVAR:11014 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a61114f7-526b-4049-ae5c-f743c09569b1 CLINVAR:11014 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c7c377-40a1-47e5-87e5-700467c53749 CLINVAR:11012 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e21a7460-09fd-4727-a2ac-261b4b2a2153 CLINVAR:11012 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd03f570-944a-4755-b30b-9fb6d47d1a57 CLINVAR:97131 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfae3a8b-578b-4cdc-b79c-14840623dc97 CLINVAR:97131 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 251e635a-dfd4-477d-b6d6-32d505dc8030 CLINVAR:203868 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df39b3a3-dba9-4010-b1cb-8adcf4ba6c22 CLINVAR:203868 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e9adedc-6e5e-464d-862a-c08923eb5139 CLINVAR:1915613 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4ce69da-2c78-4afa-96cf-10bc3a622f11 CLINVAR:1915613 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3152a82d-1ef7-4404-a24a-285dea38e981 CLINVAR:11013 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 278c2755-2fd3-4402-97bc-dcbb070fa6b1 CLINVAR:11013 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc80e4b-b5d1-4899-b974-135a1b0f39dc CAID:CA412716969 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae6b3fdb-1bf7-4e3f-861b-0595bdedcf4a CAID:CA412716969 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17390318-db8f-460a-98bd-a1e149000f67 CLINVAR:97260 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88cf77f1-d7c0-43c6-80cd-d651bbc14591 CLINVAR:97260 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57422b99-e64f-49ae-bccf-c3ee7e51d2bb CLINVAR:97193 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8736182-9b98-47f2-ac14-d76fa5d5505d CLINVAR:97193 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b39e1ae-19e4-4cd8-9f0a-8a8b1550c892 CLINVAR:97145 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5eb4d920-95e5-4719-aae6-07aa03ae01e7 CLINVAR:97145 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7af19e4-cf73-4301-9555-052df6e03c79 CLINVAR:588323 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ae73813-ac6c-46fd-8777-91784f347e69 CLINVAR:588323 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50cc3932-632b-4d39-bfdc-d75a66a1af01 CLINVAR:97350 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19abbea6-bb6e-4669-8f0b-a130ff5266f1 CLINVAR:97350 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b33d9fa-416a-4010-ba83-bce9da541216 CLINVAR:129867 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2354768-02c2-470a-a34c-80edb9a2daba CLINVAR:129867 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21826b1a-8e60-42c5-b602-6ed1af11b27a CLINVAR:10993 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5062dbef-b7dd-4f04-9c1a-9f5044c9a6c8 CLINVAR:10993 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca022628-928f-41ec-bf84-27d17b0e53ce CLINVAR:97152 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 885b903e-8e64-40cf-b9d9-b4b21f4cdd81 CLINVAR:97152 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d5d33c-c64a-4429-b5a2-11dfacb6de33 CLINVAR:1504390 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 510bbb1e-1960-4245-ae81-5b74205c20e7 CLINVAR:1504390 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cea328e-6fe4-4062-a7ee-6c0abd3b94a3 CLINVAR:836194 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0e34e28-0848-41f6-9aff-4b0dc583723c CLINVAR:836194 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b9f08a-70da-4e46-887f-6454b68ca616 CLINVAR:449382 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf1b2d85-0c0f-4ccc-883d-93d13dba76d0 CLINVAR:449382 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6749dd4d-fe5c-4db1-af0c-a2a0c3f2214e CLINVAR:451770 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c8ffa67-efea-4870-a4fe-d5586b4f0d14 CLINVAR:451770 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f772dfe1-5d1c-456e-bd84-ec8e35c9d1eb CLINVAR:97223 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cd878fa-7ce7-460a-b31c-c4265718fbe6 CLINVAR:97223 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa1e879-e0f1-496c-921f-91d57c6ec02c CLINVAR:97194 biolink:causes MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34a3656e-6153-419a-8c13-8b6c34f14d24 CLINVAR:97194 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 854b28b5-b855-44df-8d29-055c9fb73136 CLINVAR:487338 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8498cad-63af-431a-93c5-d947cb88a3aa CLINVAR:487338 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94066dda-8cc5-4b44-a854-9412fe79ffbc CLINVAR:14089 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92c8bdc2-1da5-4116-bccd-ccffae202848 CLINVAR:14089 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b13a9b0-fefd-48ed-81f5-efec9157cd91 CLINVAR:2578408 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9829b650-e495-4787-9d30-84791144a3cf CLINVAR:2578408 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7aeb012-8ec2-4249-8fff-efaf7ca3f590 CAID:CA410676831 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6151a922-f960-4876-87b6-bd0cacb0764d CAID:CA410676831 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d28a4bea-69b6-4a62-8f48-af3c9306ff69 CLINVAR:627237 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 593b6a79-e2ec-43ee-b010-5b9cf017eb1d CLINVAR:627237 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ceb39d5-3c05-4e01-8197-0f365ffff7f2 CAID:CA410676789 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ea9fbd9-dca9-4311-a0c6-b4cbc1f64d2e CAID:CA410676789 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d759c99-3a72-41de-8cf6-2f7c6f1af3b1 CAID:CA400032349 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6e9b156-77fb-4ba1-942c-581a508824ef CAID:CA400032349 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb40d1a4-55ed-40c5-8865-a355668e3b81 CAID:CA2262611500 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7448d368-98c4-4ec0-a747-0242f5b63cf8 CAID:CA2262611500 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9d9866-573e-485b-837a-3eb2e7da6eea CAID:CA2261369696 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f69788b5-cd10-457c-9d34-0f9865744a89 CAID:CA2261369696 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65ca92ed-f97b-48a7-8142-ecc4fd7cf676 CAID:CA399791504 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65a0be73-5e1b-45f8-bd10-ca69ba325dd6 CAID:CA399791504 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbdb9aa9-d02e-447a-9a10-643e661584e1 CLINVAR:1684423 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8687390-f11e-4c41-8201-eb495b59e71e CLINVAR:1684423 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c88cd107-2a71-4860-972f-07112ac42a09 CLINVAR:617956 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c694bc09-2bd4-4a1a-8622-491d2fcbaf0e CLINVAR:617956 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be4439af-d518-4e90-8a0c-afd76eb9d3c9 CLINVAR:2022313 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5dc3730e-3bf3-4eae-998d-4ec75999bf1c CLINVAR:2022313 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ebf8184-e323-40d7-bb15-1dc7d055d5b2 CLINVAR:802613 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b0ab631-472a-4d48-ac17-51fa801961c1 CLINVAR:802613 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 602fa5fc-a491-4c33-90c0-afd909fcde23 CLINVAR:421298 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d37840d-be0d-482c-91ae-d9d6a2fb4f83 CLINVAR:421298 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b7036f-da06-4b3b-8213-bcbb02f9c66e CLINVAR:1692635 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06d0063d-f770-4c04-8bec-4258bc2afb19 CLINVAR:1692635 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c63217-e75b-4dd6-897f-a73d72c8224e CLINVAR:1506231 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cfb53cd-59b4-4f9e-ba93-17ab0d5e9c89 CLINVAR:1506231 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 571831b3-7341-4947-a988-0d97c9232a2f CLINVAR:427582 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 090af4b1-09b7-4cfd-b12f-ad237efaac7e CLINVAR:427582 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82336b1f-1f1f-4e7b-a662-3940b5a2cf5c CLINVAR:820795 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d34198d-1ed1-4861-8c8c-8e1fb8bf46b5 CLINVAR:820795 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4291c32c-1ed6-46c3-8145-e520c3fd50e5 CLINVAR:2839457 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9de583dc-f5d4-451e-8930-4d611313e52d CLINVAR:2839457 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ae5ae8-f0e1-4a56-baa1-8234fe9fc2c6 CLINVAR:25222 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53345062-3903-4e86-a37b-672f99141560 CLINVAR:25222 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d64f5c5b-42ed-4b1a-b85e-8d85ac151e24 CLINVAR:3618 biolink:causes MONDO:0009258 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75506822-9fa9-442a-a569-1a5406930ff6 CLINVAR:3618 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deeb4c43-d338-4d1a-a710-9bd3f5d028e3 CLINVAR:37355 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbce648d-fab8-433a-87b1-ab4b78bf7428 CLINVAR:37355 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff6b7114-4c9a-4525-bdfb-09e226dc13e8 CLINVAR:25325 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35782778-4859-4494-855d-ea11dd3efce2 CLINVAR:25325 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e81d974f-dc2e-4733-94c0-0729c4f9aa59 CLINVAR:25285 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59816957-8952-4951-94f0-10f6bfd2efd8 CLINVAR:25285 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de9df46-9074-4f86-845f-c5db666da8ad CLINVAR:25137 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c3bf373-0070-476c-b98c-60bfba566152 CLINVAR:25137 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb92d0c5-40cc-497b-afe0-42a72be8b23f CLINVAR:25299 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7db91441-05f8-4b65-a26d-54931c6719e0 CLINVAR:25299 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98f069f4-430a-42f4-a63f-aa8bdb2a29fc CLINVAR:649344 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b578052d-c408-4dcc-b01d-aa09ae8f8886 CLINVAR:649344 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 649fd154-4cd7-492b-9e24-cd9034531a7e CLINVAR:760232 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e19bb415-e346-4088-bb91-347f78f3d114 CLINVAR:760232 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646c07cb-dca4-4d41-9479-a9cbdb9f5b23 CAID:CA259422 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c67a0d7-e1bd-44b4-8dad-c5ee23ce6610 CAID:CA259422 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed3dc2a6-cc86-4244-8cf9-4589184e9775 CLINVAR:2675830 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea33b1da-99bb-49aa-a39c-6c944d9b2b59 CLINVAR:2675830 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3f27bb0-adff-4878-bffe-7ffa42dee101 CAID:CA3266428703 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77487b46-f9be-4049-9c54-fb2e7f7a25f5 CAID:CA3266428703 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1968190-40cd-481a-aaa7-a6c0b3dbf354 CAID:CA397317983 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0262053b-22c9-4c1f-9f27-963265be73a7 CAID:CA397317983 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 906f4c54-dfb3-4890-832f-38ee64061610 CLINVAR:1038367 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f79ff10-1b56-425b-b60b-7dd1c15bf12f CLINVAR:1038367 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cfad628-3a08-46e7-b51e-3674c89fd621 CLINVAR:915468 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8b8f31e-d170-495b-88b1-cfc538436aa4 CLINVAR:915468 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e709ae12-5aee-45c5-9888-65b2c9a54418 CLINVAR:957857 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8a6f773-7e21-4630-ac87-7bfb02502c72 CLINVAR:957857 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96d4983b-c5bb-46ba-8cf5-9803efbcaaa3 CLINVAR:97337 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52ac0b50-b1f6-47d8-bd3f-ff1be39e6d42 CLINVAR:97337 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 379792bc-3ed4-41ca-a029-71cdae0cb706 CLINVAR:1720979 biolink:genetically_associated_with MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b699d189-25cb-49e4-be67-fd3006789a58 CLINVAR:1720979 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e08132-d482-4bf7-a147-802d6163715e CLINVAR:943237 biolink:associated_with_increased_likelihood_of MONDO:0010703 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af0cc3e5-67d1-40bd-8760-bb25284565ec CLINVAR:943237 biolink:is_sequence_variant_of HGNC:8512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de5243a1-7642-43e1-8977-950fec4768ad CLINVAR:867094 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 034ccde3-83f3-4a59-98a6-238f3ba7eb5f CLINVAR:867094 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ecbfb3-d030-4ba8-af22-723e341b8e82 CLINVAR:36143 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d64100f-e713-435d-8d46-a0f818bb7d49 CLINVAR:36143 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8587ad77-ecc0-49e8-a539-125c74b9512f CLINVAR:102783 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0385d1a-d2ae-472a-bf1e-50da6992ca79 CLINVAR:102783 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c465fbc-ae57-4bfe-bf7d-27a206729f26 CLINVAR:102760 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3cf62297-6c87-4a18-8399-e8ae147317ed CLINVAR:102760 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f85d77-afe0-4c79-aa14-3c4ffebcb59c CAID:CA16020884 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10166057-2475-4c92-8432-27e0ac7dac13 CAID:CA16020884 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 560ce735-5279-4f56-aa98-6d41852eda30 CLINVAR:840575 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42b4e9cb-7250-4346-b8bc-29145b75efe7 CLINVAR:840575 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1024af16-9803-4562-8109-2b56dd869b95 CLINVAR:4820220 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12bd6eb8-d97f-478c-a691-3fccd75fc923 CLINVAR:4820220 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc1c299-b727-492c-8a02-9b64f448973f CLINVAR:1167086 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9a46b46-9e89-48cc-9f75-b10d05407bdf CLINVAR:1167086 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 698b99e9-ff4d-4423-82b4-015b7a4224a2 CLINVAR:160208 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9695257-5820-437c-9605-378e7fef53d3 CLINVAR:160208 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d328df9-b67a-492a-879f-28305274f3ac CLINVAR:1180752 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d283e07-5b8f-4760-b375-b95eaa3960a6 CLINVAR:1180752 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6ec0c5-89db-4016-bed0-f0f655fe1c28 CLINVAR:201154 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 525f49f8-1759-4327-a336-ef9c328adc0e CLINVAR:201154 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa16b87-2663-4cba-b0bb-b9e112c0564c CLINVAR:657321 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b953d4fc-63d5-4c66-b585-a5ad93810e59 CLINVAR:657321 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6f13da-d2b7-427c-8dc8-8fb92021e40c CLINVAR:2635623 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af4efb75-1300-4650-9cf3-16735d9bc5d9 CLINVAR:2635623 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b166c0a5-6126-4bc6-a469-d77844261e45 CLINVAR:1070754 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2e34ebe-14c1-4d36-b692-eed3b9822f18 CLINVAR:1070754 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd54d2a0-1c56-4236-8e7a-76140d62e5c9 CLINVAR:38561 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a1ec138-3173-412f-9f1a-3c0231eeb0d4 CLINVAR:38561 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15722ab5-e6df-4def-b98e-40511b1bdf4f CAID:CA340745868 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 294b8ca0-f52c-40b2-95b3-fcb48eeb14a1 CAID:CA340745868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 885a5b50-c030-43de-9b3a-651f69f55e29 CLINVAR:25165 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2db89b65-e83a-4200-9bf4-c39db1daca64 CLINVAR:25165 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe3133e-50d2-445b-b1f8-93d69939420a CLINVAR:2577272 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34013560-218a-4d6a-a7a9-a0da32afbb35 CLINVAR:2577272 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60992a82-85de-4951-835f-bfbae1d3adf8 CLINVAR:25231 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fd29bcd-6669-48f4-aca4-c9b8a296c061 CLINVAR:25231 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc5dff1-e62c-475d-8ac3-f09e3d363eae CLINVAR:1803135 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4199844-2d2b-4e2f-9b68-aeb4f074aaae CLINVAR:1803135 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eba6136-2b15-410d-941f-859dcd63a682 CLINVAR:98850 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c557b58-12f4-4b3f-a5b2-31df7b80fcc6 CLINVAR:98850 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ff43b11-6322-4135-a07e-738c8f70bbf9 CAID:CA373279081 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecea28fd-bed6-48fd-89d2-d924d8766ed4 CAID:CA373279081 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97d867ef-0e95-4adc-b08d-4412a9a075dd CLINVAR:92522 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac79514e-bd2f-40c1-9289-ff58231c92f1 CLINVAR:92522 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d8787aa-44d0-4546-b245-b321c0d48d8d CLINVAR:3621 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fe14454-6cf5-470f-8ea2-86054d3fe984 CLINVAR:3621 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e42d80-b452-48af-864d-00ea2b6d6b3b CAID:CA340744120 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7a82254-ad92-4b50-96a5-4317df3ed07d CAID:CA340744120 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f1db8c-ef53-435f-bcd9-d204010db82d CAID:CA373284208 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2df63f3d-520f-4bca-8915-765e8a8122e1 CAID:CA373284208 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc511d8f-2072-4cdd-b1e4-626041dbff60 CAID:CA259329 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87d7b32a-5565-4d8e-b073-8aa46864c81d CAID:CA259329 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7352589-31e2-4537-8aee-bb9033f4cc9c CLINVAR:25174 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd3fc69d-6dbb-4e79-899a-48202e993985 CLINVAR:25174 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f777bdf-66bd-4e14-92c3-67f05c0ac76a CLINVAR:439751 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 235305f6-d523-4bb5-8aab-f9b0a5a87a71 CLINVAR:439751 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d292c04f-0d04-42a3-8a40-4bca2555afe3 CLINVAR:197716 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5e51aeb-cddb-4e9a-8750-8bfda5542066 CLINVAR:197716 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b02f82e-b79c-401a-a58e-a1a228b1c4ba CLINVAR:25194 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc69b80c-3397-4281-a9da-fd1b687100ba CLINVAR:25194 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1597c104-8e48-498c-a74e-5f49b2be9c4d CLINVAR:203732 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2602fa6-b51b-49fd-bed8-37bd94fccb29 CLINVAR:203732 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1de0736-e6cf-488d-a846-cd5ab12c7aaf CLINVAR:2941442 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc4d54e2-87cd-480f-9022-c6c1d8ccbe2e CLINVAR:2941442 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48d3533e-0106-45d7-be1e-28c94bf7dda7 CLINVAR:2000377 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9973675-0698-49ae-a27d-ae72c18d645a CLINVAR:2000377 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e973335e-42ff-407b-bac0-e4abb329085d CLINVAR:1066954 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09601ceb-ea65-48fb-a69b-619226120c97 CLINVAR:1066954 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0345b858-b6d0-4928-a0ae-9c1eb7400207 CAID:CA902149 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 329b4466-9389-4df5-88dd-66a17ee6dc3d CAID:CA902149 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aeabead-9baa-4285-9463-a43f1322f04c CAID:CA373278809 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 964f6ad9-ddb9-4b0a-8f67-f3b8566bffd0 CAID:CA373278809 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bf092bc-0eda-48fd-ac58-d1abfaefa95c CLINVAR:25117 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6902ae0c-b2e7-48a7-ab5c-7c6524b3b348 CLINVAR:25117 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60b1bacf-2fab-4c19-a14b-3fbaa10f26a2 CLINVAR:2945021 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1090c1c1-d321-480f-98ec-58bf439bd2cc CLINVAR:2945021 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def792ff-5759-4ba7-bc86-960f17d212c6 CLINVAR:3622 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68ed69ea-10b0-4a01-a401-c8ebd875d958 CLINVAR:3622 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82ac8560-a444-418d-82c8-828b24b2c657 CAID:CA587568387 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1de345ac-1d4d-4b5d-a4b6-7076a4fd5183 CAID:CA587568387 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ab29a83-ec81-43ae-b3c6-7235ac4db72a CLINVAR:1687586 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c1ae84e-464a-447e-8a70-1fe227824339 CLINVAR:1687586 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e701925-b778-4f1a-b621-7fbcb93471af CLINVAR:951360 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a712f53e-5cb9-46e7-8a17-f9af252ecba2 CLINVAR:951360 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb81cca-0cca-4cad-aec5-ab6ddf8de074 CLINVAR:2018845 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da0cd425-3b55-4f4c-85ef-e8bde1bd3a39 CLINVAR:2018845 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8a5b632-4bdf-4a11-93a0-b857f2d38a6e CLINVAR:2675829 biolink:associated_with_increased_likelihood_of MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b09b05e4-1b55-4f21-9e7e-c408f8ba9514 CLINVAR:2675829 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 254f2d32-b90b-49b1-bc34-db21cabcc80c CLINVAR:439749 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4df5b936-5e12-41b2-a3c8-f18716983dd0 CLINVAR:439749 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a583f39-4581-4035-920c-80ecc5395d68 CLINVAR:242644 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47e6a191-2ebd-45c4-a687-9fc5cb3e8eac CLINVAR:242644 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4782ba-1f74-45c4-b49c-bc6703b54b3b CLINVAR:25142 biolink:causes MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc3a288d-d77e-4ebd-828e-a39d578a2acf CLINVAR:25142 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e74a378-592e-4ae4-ac72-9e3447128521 CAID:CA405642059 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9194aef1-9a1e-4471-9e53-c60dd3b09922 CAID:CA405642059 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a47f67c2-d991-431c-9645-ea32752cc7ec CLINVAR:133183 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0da70155-14c1-440f-8862-3f413c2228c8 CLINVAR:133183 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0651e26-be99-4eb0-98fc-75332b330604 CLINVAR:281479 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7b25022-d628-469a-9d64-315c90c46210 CLINVAR:281479 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a18072-3546-4ec9-916c-d3c77c25288d CLINVAR:133012 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76fa0904-ed53-4fbe-982b-a8bf8f7c2abe CLINVAR:133012 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d23cc63-c305-4390-9a63-97bf4aeded72 CLINVAR:133017 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eeab9ac5-4d98-4fcb-8625-4f38a523bb16 CLINVAR:133017 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc95dc9b-d747-49de-89f4-078dd6c53b73 CLINVAR:2438819 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 35a57bac-3a09-4db3-8341-16d664d60575 CLINVAR:2438819 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f63adb0-d4e6-483a-a4bb-88b12821701e CLINVAR:160221 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26ffeb3b-1aec-4d9d-a6bc-fd1d88ecb448 CLINVAR:160221 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64678820-1e07-4bae-9dbc-66cb4b171eff CLINVAR:2629699 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a4c1d58-bc24-415d-80b2-1f3e112706cb CLINVAR:2629699 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f96c222-1b86-4783-903b-f715554b6ded CLINVAR:1678621 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 687a3426-ddc7-441c-91b2-dcdf517c01dc CLINVAR:1678621 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e171285-9d20-48d8-9b1a-408e282ced54 CLINVAR:918065 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdd76591-3b13-4b68-b252-50e24a491c2b CLINVAR:918065 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60162ead-82f3-4a09-8fc4-c65d5f2004e8 CLINVAR:4742486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22d53744-bceb-48f9-bb1a-0e01eac1d075 CLINVAR:4742486 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c51ca246-9d93-4bc3-9747-036c77ffc976 CAID:CA386964284 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2786708-bbd3-4ca8-86f1-730027742beb CAID:CA386964284 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe2d0cd2-a7e4-45a8-be86-3b439ff06e69 CLINVAR:4847389 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 076fa192-e2d3-4c2c-91f8-42deb178f3fb CLINVAR:4847389 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e8ee19-a308-4c79-a088-426b3ef5fb9a CAID:CA367398398 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 420b1f30-678b-4186-a226-a5bd7058290f CAID:CA367398398 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c420255c-4675-4f14-a50e-572316baa6c4 CAID:CA367397010 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5fcf5d9a-47b4-4768-b8ec-51dcd2e5d3d5 CAID:CA367397010 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e70a5f-f9f6-4a48-83fd-b751ddc0e959 CLINVAR:288531 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc012d74-20f5-4d4d-81d2-163dc1619996 CLINVAR:288531 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b546613-0b8e-4e13-b7d2-1366249d4a4a CLINVAR:36240 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d16449e-a711-40e1-a71e-d8a5318ef67a CLINVAR:36240 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70af1c28-54e5-4d72-a31b-6b6502a67350 CAID:CA409107487 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a53bc06-92d1-41d5-ab54-88534bd8a092 CAID:CA409107487 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48962c71-583e-4f4d-824f-eb5179de091c CAID:CA409107488 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6b97227-4282-44bd-bc3b-a1c1a54e62b5 CAID:CA409107488 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e158f91d-909b-47d8-ab67-c23bd9dfe8bf CLINVAR:435309 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb5a9e4f-44d5-4940-8560-0e58f3dcd123 CLINVAR:435309 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb955fd7-24e6-43d9-bc24-4abc6f8f7bbc CLINVAR:1801853 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa2dbd03-a238-4357-bf85-31a2d14f5302 CLINVAR:1801853 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3aac3a8-050d-4862-8922-bb1455516aef CLINVAR:435305 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1695d3f0-ccfd-4e0b-a116-f75da619fb3e CLINVAR:435305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4db2c3e-457c-4df8-b77b-0535d0092c74 CLINVAR:1679546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdd924d1-5183-44b2-a273-9c9cdf6686f9 CLINVAR:1679546 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a60177-a01e-4490-8529-529dbb7f4931 CLINVAR:804849 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ee2066e-70f5-44c7-9f51-bc05218168f5 CLINVAR:804849 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd893529-66e6-446f-8269-75393168529c CAID:CA367402127 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6b40223-3436-401b-a778-cae20db328e7 CAID:CA367402127 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c8ead88-ba21-4e03-82a7-093d26540ebb CLINVAR:972807 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 659eb5d5-488a-4ad0-af05-4dfda56af579 CLINVAR:972807 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a44e7648-8f93-4a3e-ba4e-82c27e77d0c7 CAID:CA4239600 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b496ef2-e47e-4ecc-b779-51e16d5254cb CAID:CA4239600 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bc74d36-d7c7-4d62-83f5-46ed774445ff CLINVAR:3600553 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d1fe2e9-50be-48b2-b58e-4329a284325b CLINVAR:3600553 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f4c193-0783-4a42-848a-e315f4a20fa0 CLINVAR:2136907 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e28181e-5734-4321-ad31-89dbbc83e997 CLINVAR:2136907 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6a0a17-aead-4e5c-808d-797146324629 CLINVAR:428225 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b54c492-b1db-4f74-8792-8429624bde4b CLINVAR:428225 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d8c01dd-5088-4db7-8c00-9156b896dd07 CLINVAR:554960 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4eb6d13-62a4-4f1d-8ac9-5d66bf2a670d CLINVAR:554960 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 945b1389-97cc-4771-9bf7-6cb502337c3f CLINVAR:43168 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c52c36b1-2d8c-42a3-a18f-149d83fbf139 CLINVAR:43168 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0ae94a4-107a-4f1f-8207-338ae151817d CLINVAR:447443 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed2c331c-9389-46be-9336-e38f54e517c6 CLINVAR:447443 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 745d1604-ed6b-4ebc-b9fe-260d38722a7d CLINVAR:2126293 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4b2351b-9107-4506-8323-4357b0e98d65 CLINVAR:2126293 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e9d82e9-cf13-4d90-92e4-f58047d5eacf CLINVAR:2033861 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e5dbdf1-a633-4943-bce8-3a9d15f938d8 CLINVAR:2033861 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34f270c0-cb51-460d-a920-c93b5af8582f CLINVAR:2028290 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d39084e2-5052-43f6-a984-d180b5675160 CLINVAR:2028290 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3164d4f-e17b-4caa-90bf-9ebd40fe55d0 CLINVAR:536551 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09827785-7e77-4c43-8914-25a2084b2308 CLINVAR:536551 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c7ab26-7c2e-4cc4-8530-7190891e2594 CLINVAR:301416 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d140fa9e-f52d-4fe5-ab11-795e0d22a940 CLINVAR:301416 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d1689e3-a955-449a-a147-1c310b47f5a8 CLINVAR:7833 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fe86e8b-e0e0-4955-ba49-1310423a59aa CLINVAR:7833 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bba5fef-ec62-4c2d-b8bf-1e1cc4d90b48 CLINVAR:1012092 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e18c615b-7bf1-49db-81b4-e69a8da7abac CLINVAR:1012092 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b2dc97-838f-45db-836b-03c03eb74c61 CLINVAR:481129 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68e75631-805e-4e84-98fc-48b00a1a430f CLINVAR:481129 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1680e6e6-6f6e-46de-9b17-2d38049abab3 CLINVAR:185200 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e86287c9-d9cc-408f-9fe3-7bf01479e18c CLINVAR:185200 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76557d01-2b0d-4ff1-aecb-3e01236791fd CLINVAR:468706 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f49fe4d-bc5f-4aa1-9b2f-5c999b9903c4 CLINVAR:468706 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c953373f-e3fc-4800-9b3b-cffe0a3e1fbf CLINVAR:436442 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe4a78a6-20c2-469f-8b94-ed4139d737ea CLINVAR:436442 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd6e0e4-1277-44cb-9f3e-8631683c98d5 CLINVAR:421123 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72e3471a-ad1c-4210-b750-a722428e3db0 CLINVAR:421123 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d85aa62-12cc-44e9-9d1e-7193e3eb62eb CLINVAR:428224 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f77c4f14-e273-4719-b874-570ea2af9398 CLINVAR:428224 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad3ff54-04b2-4edf-9e92-fb8a49c4d8d5 CLINVAR:1042020 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd8f32ba-5fbf-4052-bb3e-e7587f3c2b79 CLINVAR:1042020 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f10447cc-ac2b-4d20-ab38-fb7fbc201bfc CLINVAR:2447222 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8584c7c4-a228-48e2-ab62-3f5f133dbb2e CLINVAR:2447222 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a214dee3-d86f-4266-bcfd-fa1e429e680e CLINVAR:495246 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01bd20e9-250a-4f67-9271-7e1084b2b0ae CLINVAR:495246 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68768abf-bf69-404d-b82e-93b88d01fa96 CLINVAR:590772 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba7ce7a8-4010-43ac-b124-ef6466f17d2f CLINVAR:590772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23131d7a-4f7c-4acc-8df9-cf6aeeeb287d CLINVAR:1305774 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f64f05c-0e53-4325-bf05-3ff1a90698da CLINVAR:1305774 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00ff4d16-0cc9-4709-87b5-86922bb766b6 CAID:CA2586965958 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8058361-1dc9-42c1-8409-8ad76a288111 CAID:CA2586965958 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2959a79d-3aa0-47b5-bf8f-d9e6ed82c612 CLINVAR:2581619 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6b84840-3cd9-4ee0-8d5d-02f56df0851f CLINVAR:2581619 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f1340c4-7064-4c22-bc8c-a9a774b34e75 CLINVAR:1526094 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d40e772-1a60-4a68-81b9-d4a4704f2dfb CLINVAR:1526094 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2436bc2-e56c-478c-93ff-597e20c9142a CAID:CA355963160 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ee65172-205b-425e-abcf-5e0cf0f7d559 CAID:CA355963160 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65884c0d-7098-46c6-bdce-5385eec59652 CAID:CA355961573 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85d9abb7-1855-4931-b45b-aa1752acdbe3 CAID:CA355961573 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58bd91b6-bce5-4957-9b9b-013f2b0ca4ac CLINVAR:630829 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20153858-a6a4-4f8a-be59-d50462b138aa CLINVAR:630829 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddf23554-8edc-4ef6-bdf8-65d200511599 CLINVAR:2202283 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cacee589-42a1-4cf2-a99f-0148c5437198 CLINVAR:2202283 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa54c37-9941-44fc-873b-11e9cb5ddbf9 CLINVAR:804862 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c0be528-3dea-4213-8540-f75af2d9d876 CLINVAR:804862 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0a62234-7e7b-4035-b3f2-c8c4e78b2ae0 CLINVAR:14208 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82f6c205-f4ec-4d58-99dc-c06420f4126a CLINVAR:14208 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f7b90c-7adf-4eec-9044-a0793573a579 CLINVAR:189086 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab632ab1-d7e7-451d-9dcb-f9f890d87f7f CLINVAR:189086 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08acc2fb-d586-4574-94fc-1022939d05f0 CLINVAR:552477 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6ff9866-15b1-45f8-a661-906afe56edbb CLINVAR:552477 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b52b52fa-2447-40ad-a7eb-d0a47bbf51c1 CLINVAR:159719 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c4d1ec6-b4f8-420a-a4d3-db237a530ff7 CLINVAR:159719 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52cbe23a-ac88-40e7-8528-4248f2ee75a5 CLINVAR:446499 biolink:causes MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9877f2d2-9367-43a9-a343-f3cf7e43ce92 CLINVAR:446499 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88671d53-37b5-4f4c-84f3-32741796f0fc CLINVAR:60763 biolink:causes MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f070b270-74a1-4e39-9ffe-0db9149e9892 CLINVAR:60763 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67400a9b-9a9c-4128-a926-0c356ec70438 CLINVAR:446500 biolink:associated_with_increased_likelihood_of MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e82ee78-00a2-4918-af8a-2f4f1450488d CLINVAR:446500 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468ba793-8341-4d27-982a-10f8591857d0 CLINVAR:372467 biolink:causes MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7f17ee4-222d-46d4-a1ba-5c5cfdd0b02e CLINVAR:372467 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11a99927-a1db-49e0-9271-9b4e4f672510 CLINVAR:1504818 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9d598f8-b548-47ee-8973-3e7f939bdd00 CLINVAR:1504818 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7ec2b8-f19b-4470-86ac-7dec835b85db CLINVAR:2534971 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 681da689-783b-414e-aa56-a2343bd5db2d CLINVAR:2534971 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a990962b-a904-49c0-9223-33793b734605 CLINVAR:827733 biolink:causes MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cbb07fc-60c5-4e93-b6ae-e4c0815a662c CLINVAR:827733 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a857c536-379b-4bf1-910f-b183ed8bd4a0 CAID:CA2695204584 biolink:causes MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f9ed979-20e2-4c98-9702-34228a56540c CAID:CA2695204584 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1d7e4ea-50d5-4d72-b1ea-65a39c109a89 CLINVAR:446497 biolink:causes MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e90f234-a0fd-4ca0-8f0f-f9d4eeadb175 CLINVAR:446497 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 490d8fda-355c-4c8b-ae51-9fd1a7d54adb CLINVAR:446498 biolink:causes MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94ee9754-8002-4d7d-be84-64d858c08b08 CLINVAR:446498 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2031cb8f-1a56-4a1e-ac62-4d62e0f84f43 CLINVAR:4077155 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 382c3463-bea3-4c88-ba9a-93eed7cfe7e3 CLINVAR:4077155 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f44cac45-a1ab-4d65-b3a7-92b0c949da60 CLINVAR:2011638 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b2c8b4d-b7c8-45f5-bf8d-6fd917523553 CLINVAR:2011638 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22492950-ab49-4d44-82bd-f4b272804d83 CLINVAR:1393351 biolink:associated_with_increased_likelihood_of MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1eefb5bf-6e4a-422c-9444-cc95dc63dab3 CLINVAR:1393351 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e94b0410-08b4-4837-8835-a069f881ab7f CLINVAR:2104788 biolink:associated_with_increased_likelihood_of MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09f14faf-af60-40d7-b4c8-89e868aad8db CLINVAR:2104788 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbbd445d-e82c-42f2-a963-9379e5fabee7 CLINVAR:3385344 biolink:associated_with_increased_likelihood_of MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b793733-2bcc-4d36-ab31-1c820fd06010 CLINVAR:3385344 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd8c110-893a-4ce0-840b-79d08666593d CLINVAR:2930599 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a29750fc-d3af-4ea3-bd99-8fb6c81a9a40 CLINVAR:2930599 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27adcfc8-325d-4a0b-8a79-294169dccefc CLINVAR:1132785 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da54d3ea-5c96-4e1d-b3b7-e8dd349d004a CLINVAR:1132785 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88e9bc08-854d-496e-b8b8-28fd3ec49f15 CLINVAR:1624912 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c87ce25f-53ed-4810-9f88-ced91b6e9228 CLINVAR:1624912 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ae335d-0408-489a-a48e-83882d04dc60 CLINVAR:649231 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71395d4f-5c60-4f2a-84ca-f0075845c22d CLINVAR:649231 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 402db7e1-f0d0-42c8-9d99-402942591099 CLINVAR:379896 biolink:associated_with_increased_likelihood_of MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82e3116e-a69d-457f-b5ee-8f797e1503be CLINVAR:379896 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3003ec0d-e46d-42e9-8b36-08ebdf6f8a52 CLINVAR:156009 biolink:causes MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d73d467-4f2d-4640-8c54-21e16fbdfdef CLINVAR:156009 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fae05516-a7cd-42ca-95f5-69c0c00a0bcd CLINVAR:156008 biolink:causes MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffeb9050-2983-415e-a26b-7fe457ebd602 CLINVAR:156008 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19b5d239-9f53-433e-ac15-b1ce5a29ef89 CLINVAR:126459 biolink:associated_with_increased_likelihood_of MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 142c8ae1-6896-41ad-a281-824f4452a001 CLINVAR:126459 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987bb072-a555-4d78-b273-b2fac9e9590e CLINVAR:209182 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34108c88-dee5-47c5-9979-a44a3ea707c5 CLINVAR:209182 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 727006b5-7070-4349-aeac-243ffbafafd7 CLINVAR:3767319 biolink:associated_with_increased_likelihood_of MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58286d90-8889-4ae0-b3fe-b6b4c00ec4a8 CLINVAR:3767319 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fef3a99-50a1-4d87-ac70-199b01535c79 CLINVAR:1338736 biolink:associated_with_increased_likelihood_of MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4781812-d770-43a3-9a3f-563b87d83ab2 CLINVAR:1338736 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897103b7-5fbf-447f-bcae-1c454c372018 CAID:CA2824998326 biolink:associated_with_increased_likelihood_of MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9dee3876-9c54-4f75-9b51-049ce6f8bc92 CAID:CA2824998326 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcebd7ab-b12e-430f-a04c-2036e7314716 CLINVAR:861979 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3034be07-52f5-4138-9ae0-8f5e33de36fe CLINVAR:861979 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e21d5d81-a297-45ba-8ad2-c92f4ff03a76 CLINVAR:376067 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63846dfc-68bb-4129-91c0-a6cbf621b552 CLINVAR:376067 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e686bdda-8e6b-4427-a132-5760c675cee2 CLINVAR:3901120 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e6bea10-a93b-46d8-ae24-0ff993372acc CLINVAR:3901120 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c978524e-4952-48a0-ab96-12e583ba313e CLINVAR:60762 biolink:genetically_associated_with MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7259fd4c-911f-476b-82a6-f48f7197fa27 CLINVAR:60762 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5141473-5ea6-4524-95ed-7af3bc5a6d7e CLINVAR:827732 biolink:associated_with_increased_likelihood_of MONDO:1060136 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 844b9ebf-bc35-4ca4-8ac1-c803e86413aa CLINVAR:827732 biolink:is_sequence_variant_of HGNC:8979 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e206cbc8-02fa-435d-bae1-465bdaa5fdd0 CLINVAR:567415 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 491104cf-f53e-46b3-8350-49f70d074eec CLINVAR:567415 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea86ff26-ac8e-48bf-adca-12919d48e6dc CLINVAR:432357 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f700d840-7496-4597-a09f-01106595af8d CLINVAR:432357 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8715a429-7ad2-4252-a9e0-93d79244fa36 CLINVAR:922959 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 720bcf1f-9417-47f6-ba86-4718967a83ea CLINVAR:922959 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e66c8e2-bc45-46dc-8122-62754b853fb4 CLINVAR:267514 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d044a4f-5754-498d-8bf9-c1397fd8abf4 CLINVAR:267514 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cce2f1f-4725-4f22-85ad-1ebb79d36ad5 CLINVAR:638952 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c543a471-21dd-4d91-89f6-bf6442b37b4e CLINVAR:638952 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ece522-3279-476f-928f-066c96d85816 CLINVAR:827289 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb86ad31-4e37-468d-b59c-4dab88e79dd8 CLINVAR:827289 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261b9f3c-460d-4dbc-a739-76f6d64da930 CLINVAR:52712 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2aa02e83-736a-4b2d-9302-e79f081149f2 CLINVAR:52712 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb622c70-e086-47e9-99ed-240e2d9c2f4d CLINVAR:1171382 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6fccb54-3da8-4e89-97ea-308cc040ebd8 CLINVAR:1171382 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2941974-3a47-4b63-a641-032f747dfaac CLINVAR:37986 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ed3bbf3-c73d-4528-a76d-c0ea8350ee46 CLINVAR:37986 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98abb7e9-a374-4263-9f6c-89930e3924bd CLINVAR:481607 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1ba2f3b-fbf7-42d2-866c-c5178a28910f CLINVAR:481607 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d350ed4-2bd8-4602-9b54-f0a94b147473 CLINVAR:96877 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 693ea3b4-f614-49ce-8b5e-c426dd8f5670 CLINVAR:96877 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10952184-7a8c-47ba-b1f2-4a3810624841 CLINVAR:940222 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb7178bd-ad00-4130-b0bb-2bbf19802f93 CLINVAR:940222 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b0a589f-51ac-4ade-aa74-f4d4bf1d269a CLINVAR:220353 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8be4deb-a6c3-4aaf-9244-da3bcb74e0db CLINVAR:220353 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e76d869-a1e4-4137-85d9-8dad4cc13648 CLINVAR:38158 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 339e5c0a-2c6a-4a7f-a9de-9c4f7755507e CLINVAR:38158 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e233d6-97b2-4e8d-85b5-498536fa5f69 CLINVAR:38157 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43151bdb-303f-4e4b-b493-ea4dedf498df CLINVAR:38157 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9100d41c-c0c6-4ba5-81d6-4c95f02733a1 CLINVAR:52424 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdec20d4-33f7-44fc-b7f1-bb937bb74e2f CLINVAR:52424 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1254d28-dcd9-4fd5-ac5a-8554f8d827d0 CLINVAR:52422 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d167664-cfc7-47b1-8b2d-238aba426ef6 CLINVAR:52422 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a93d88f-e9ac-410a-91b0-2cabb6f77588 CLINVAR:433738 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d21c72d-6c19-404e-9f14-ca21a809ab00 CLINVAR:433738 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12b5a7cb-e8ea-4d47-a755-1ca96813d6e5 CLINVAR:51795 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13636dd1-a263-44e9-85bc-29a0fb393df9 CLINVAR:51795 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 308d8b47-3eae-407c-8ec7-4c8a28423f9b CLINVAR:236469 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7f88aee-290a-4d95-ac98-3d68ff427b2c CLINVAR:236469 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 826ed537-4d68-47b3-ab2e-d777ee14ada5 CLINVAR:99852 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7241ee5f-751e-4d0a-9613-57c9a0d398e8 CLINVAR:99852 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15274b10-4750-4010-980c-da5c06b0fcfd CLINVAR:1337 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fea500cc-cb68-4b77-b9d2-5e2b90f1e187 CLINVAR:1337 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 352a937e-b5ad-4724-ad21-987e92388cb0 CLINVAR:3896422 biolink:associated_with_increased_likelihood_of MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a260ce0-f69a-4e48-9148-d68aa06446ed CLINVAR:3896422 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7105796-03f4-4af9-acec-aaea5d9e03fc CAID:CA2575243231 biolink:associated_with_increased_likelihood_of MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ced62d4-6671-4103-9206-cdfcdd6aa94a CAID:CA2575243231 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 708456bc-a299-4d21-99a3-74ca87dc76d9 CLINVAR:802880 biolink:associated_with_increased_likelihood_of MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efbdccda-46c6-4e58-b295-6586e45f968f CLINVAR:802880 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32811960-7c7c-4547-af08-c71ab6525705 CLINVAR:871409 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fd9f8b1-1647-4080-a753-3e41a7724f78 CLINVAR:871409 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 613f7fbc-b7ba-43bc-be47-869b665dee84 CLINVAR:866922 biolink:associated_with_increased_likelihood_of MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7909d861-7cef-440c-8e4b-45598053e034 CLINVAR:866922 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a540de3-0900-4fdb-bfcb-6c311d6fb550 CLINVAR:804466 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 473308cc-a561-4165-8379-51c485d9768e CLINVAR:804466 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 747b6862-bcca-4841-810c-766bb304936b CLINVAR:802875 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0924089-bc5d-4855-bc31-4d534e479ef2 CLINVAR:802875 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb6ca29-971e-4f76-a511-bcd743d2b408 CLINVAR:1501053 biolink:genetically_associated_with MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90b3bfbc-87df-42e7-9a7d-44d7576374f9 CLINVAR:1501053 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 181b60ca-3e77-4698-bfaa-c6dfd211f384 CLINVAR:286797 biolink:genetically_associated_with MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68bf437f-649e-4d2e-8cfa-fb55b02514c8 CLINVAR:286797 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b163143d-9576-4731-8f6e-ccfede37ef72 CLINVAR:217632 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60c29238-b732-4f31-be74-717f53106c9b CLINVAR:217632 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5dbc00c-927a-43c0-9f14-eddd2c7e7599 CLINVAR:1339 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2424d68-9aa9-4eb4-9c35-cc4c11819857 CLINVAR:1339 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7ee065d-1668-4068-b070-d96b3833cf72 CLINVAR:913655 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb196e00-3cdb-44ea-ba59-d67bb94c8592 CLINVAR:913655 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cfe41ac-5ecc-4066-9ec4-c7e78124334d CLINVAR:92516 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18872070-7f0a-4d4c-89d6-5d5464d564e4 CLINVAR:92516 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40bb3018-64ea-459a-9f3a-852e8d980900 CLINVAR:953502 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 516184f5-17fc-4c08-9b4a-6542020ee442 CLINVAR:953502 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476abe01-513c-4aeb-9631-46fd1e53b7ac CLINVAR:2177309 biolink:genetically_associated_with MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf018447-e536-4b7b-94fd-e6252cae232e CLINVAR:2177309 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e7fea0-385c-4b4b-864c-35e102b4d5c2 CLINVAR:281249 biolink:genetically_associated_with MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fd2beea-9fe8-40f3-a40b-d314edcf4186 CLINVAR:281249 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3060a39d-627b-44f9-a900-915a16d1be79 CLINVAR:913656 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc747b52-c114-443c-914a-0e8987388f8d CLINVAR:913656 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5a8f903-18a9-4af5-a7d1-f1640c928bdc CLINVAR:866339 biolink:associated_with_increased_likelihood_of MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 506ba1e0-b343-4900-82a2-8dff44237c85 CLINVAR:866339 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 282169d1-687e-4e09-b67a-b2f3d3304b92 CLINVAR:1335 biolink:associated_with_increased_likelihood_of MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a38b29f4-0e9a-4e86-961f-cd699ff9a115 CLINVAR:1335 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626478e2-6596-45f4-a11e-f711730be2d8 CLINVAR:813157 biolink:associated_with_increased_likelihood_of MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d3d0444-85d0-4fc7-a0d8-85eb2fe51487 CLINVAR:813157 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b979bfda-5245-40c4-b302-c63247797c74 CLINVAR:556406 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a2cde14-2e0b-4c67-89dd-6f69541f8371 CLINVAR:556406 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9db13fb2-b81c-4439-b63d-3e0bbb9642f9 CLINVAR:11927 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba7b3e25-6082-4302-b1d3-7fbc3a1a2a6d CLINVAR:11927 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25cc72c3-76d4-4193-81b7-9d3d82a48012 CLINVAR:1434322 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a668b6f3-5a9f-40fc-9661-781c37793d3d CLINVAR:1434322 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae9b2c05-c47c-489f-a316-59ec1d1cbcb7 CLINVAR:968717 biolink:genetically_associated_with MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d23158e7-1ba4-4ebd-b801-6be7058dd3c1 CLINVAR:968717 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c49379b-4919-4d2b-a535-1e732937f4fb CLINVAR:2128679 biolink:genetically_associated_with MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6593288d-e058-4392-9625-fb48dcaa7172 CLINVAR:2128679 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc5d3241-0791-458e-aca9-d9af8424bac0 CLINVAR:2932624 biolink:genetically_associated_with MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ab49348-7566-4374-82bf-c3c0d1a05386 CLINVAR:2932624 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf803bb9-10b1-4624-bca2-431880a2475e CLINVAR:857949 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25a7a4e8-352b-4108-becc-adc13d58b7f6 CLINVAR:857949 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af05b44a-fbb3-4db5-9b3d-aaa52e636170 CLINVAR:1929438 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecdf22c5-9ab4-441b-983d-be5fda48405c CLINVAR:1929438 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cd89f8c-34eb-4360-93eb-2e73d961f13f CAID:CA385995805 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f2fafbf-3fb3-4954-81af-2dc9fbd112fb CAID:CA385995805 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b92641-67bd-4a5d-8d17-d86f291ab0e3 CLINVAR:217626 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22acf66f-92c4-4885-8367-a5a412f153cb CLINVAR:217626 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84b658e1-d9ac-440a-b06d-f5fa7ac27736 CLINVAR:217640 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a451c49-8fcf-4f2c-b01f-77f06fb6a050 CLINVAR:217640 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601ebaa9-fa6f-42cd-a23e-87f50c92e002 CLINVAR:871408 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31d1bbd4-c2ca-4424-94c7-7fca2bc2b262 CLINVAR:871408 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bab5dbc-e4d0-4eaf-b139-9b7b57e40e48 CLINVAR:2925499 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3139fee1-ed2e-45a6-88a2-b24088656a95 CLINVAR:2925499 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebabb8ed-0ec0-45d7-8af7-dc9e31d3ff03 CLINVAR:56730 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2ef4199-6a51-4f34-8ab0-a19ffe4a289c CLINVAR:56730 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f753d40-cb49-43be-a5d6-367664dd020c CLINVAR:1367157 biolink:associated_with_increased_likelihood_of MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8344c10f-71ce-4527-8355-f620457eff12 CLINVAR:1367157 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a09482e-1bd7-46ad-aae1-fb0aa908e362 CLINVAR:1073010 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b39a1e86-7a84-4fae-990a-479d7c433900 CLINVAR:1073010 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 752ae7f9-e752-40f4-b39b-2076c1554f9c CLINVAR:4816220 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad76c0ea-5be8-42ad-9597-362f532b356a CLINVAR:4816220 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3756f053-8e83-45b2-9651-7e839a9ea2d8 CLINVAR:217622 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7008e2a1-e0a8-43e6-b2ed-b0228c4e2d24 CLINVAR:217622 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb203787-5329-417d-8a3d-d295f2c305ad CLINVAR:934697 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9e20a42-ead9-4a86-8647-9fb4cd47d627 CLINVAR:934697 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 496cf269-1bed-4bc9-9996-2e90fc0d6404 CLINVAR:866808 biolink:associated_with_increased_likelihood_of MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48df8f78-78be-4640-a32b-0a89d0343561 CLINVAR:866808 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4eca0c7-c7a1-4158-8a30-ed0c75e73e44 CLINVAR:56733 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 411899e9-8bb0-4561-8ee3-5313feaf1f17 CLINVAR:56733 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7537785c-1985-4820-b43c-0f4b6f71ef6f CLINVAR:449448 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 166d7317-cacf-4296-be2d-baba99fbca94 CLINVAR:449448 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3ebf0a7-4cfe-40ef-9719-c5d325965082 CLINVAR:156385 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ac7c30b-083a-4ebc-9846-4b089c003a5a CLINVAR:156385 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9b08086-52f1-4067-b460-304f00cbb600 CLINVAR:56740 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cdea2a7-7fc1-478a-b65e-364ad69c8546 CLINVAR:56740 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45c6b202-9e14-49ab-9ed1-fc330d533547 CLINVAR:236464 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f786dcb4-a241-42e1-91ec-5cec90fe0107 CLINVAR:236464 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f19bc3c-ce0d-4fad-9c45-5f8550a8829f CLINVAR:1074952 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79edfe23-d05c-4654-a61b-c8b76b8223c8 CLINVAR:1074952 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b83c773-f458-47d5-94b1-48434c7bbb35 CLINVAR:217624 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91c72ef7-8fa5-46ca-8da3-6d1ad47ab17d CLINVAR:217624 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ef7e63-3675-4d7b-b351-f7fea379093e CAID:CA385999988 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a32db4c6-6a21-4e89-9a3e-ce60c97369a5 CAID:CA385999988 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e541fe-a7f0-49f8-b734-20683adf291e CLINVAR:56729 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c02c89c9-7056-4fa7-96eb-29bd9579ece2 CLINVAR:56729 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60faea71-3358-4178-be8e-5b7826396bb3 CLINVAR:450915 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad028806-6482-4663-8173-3f3465ed7435 CLINVAR:450915 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38323890-fae4-442d-a25c-85580d8a9225 CLINVAR:99853 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8ed2637-2d1f-4e24-b964-5272b048bfcc CLINVAR:99853 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e2fee3-06a5-43ad-93de-50265d30d05b CLINVAR:99850 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62991143-dd81-48a7-9c00-820ec211742b CLINVAR:99850 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cde78150-e20d-4c08-910b-3d2e4576e9e2 CLINVAR:618559 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d4b75a7-8cf6-42a2-a07b-19436cea20f4 CLINVAR:618559 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bbeb384-4aa3-46e2-b919-a751109307ac CLINVAR:866473 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10a1b3e3-f5aa-4ecf-bd49-006457853d35 CLINVAR:866473 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a550fffd-5802-42a7-9764-149e66dce25c CLINVAR:99864 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40854be9-2cba-42d1-b07d-d63806677c06 CLINVAR:99864 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad9209dd-4cc9-4f52-9b41-6f0806a6a52a CLINVAR:1307943 biolink:genetically_associated_with MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ec7f1fd-623c-42a5-99f6-82ccc02bc592 CLINVAR:1307943 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be0d8745-972b-472a-93fd-925ff0adb979 CLINVAR:659046 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed8e4793-86f6-4f10-bf5e-a0e68570c472 CLINVAR:659046 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c891d8b-1e81-4557-bcc2-fdfb67ad1efa CLINVAR:217628 biolink:causes MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4711409-d9fd-4ceb-b6a8-70ec90cb2614 CLINVAR:217628 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7271dd6-be8b-4046-815e-9d2bb3942375 CLINVAR:2023655 biolink:genetically_associated_with MONDO:0100451 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72172633-bcd8-46e4-ad4f-83baf9e2ca9e CLINVAR:2023655 biolink:is_sequence_variant_of HGNC:29021 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d630fb-d7db-4321-9e72-32d03b12b4f4 CLINVAR:2138114 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58ccabe4-921b-496b-b6bb-48688ef88867 CLINVAR:2138114 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0731dc54-181e-4efb-aef2-68c114dc9fb2 CLINVAR:370157 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db830604-146a-42c6-aab4-eff0c84e4f63 CLINVAR:370157 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72633ddd-0c52-40c4-8d48-244497deecd5 CLINVAR:917665 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cab978bc-c655-4aed-9eaa-4cfec34c65e7 CLINVAR:917665 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c428582-a84b-44ba-9b4c-47053a8e064e CLINVAR:92471 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25b5127e-f324-433c-8c94-e85f5d98aa3f CLINVAR:92471 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f8f00cf-c821-4b48-bba2-6495afb6ddd6 CLINVAR:637961 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cd86bc0-ab3b-4d7f-8dd7-a722507ace28 CLINVAR:637961 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87993b26-527b-413d-899a-b6c453fd43f9 CLINVAR:38184 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8525e73-f9f7-483a-bbb3-5374808a03db CLINVAR:38184 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c57c88bf-5955-4d23-a58b-be290dccec12 CLINVAR:55678 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cf7525d-d07e-4cc6-a2a3-530d4a51975c CLINVAR:55678 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae86d470-eb91-41f6-8316-7875d7a3ba41 CLINVAR:483092 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 124875e8-0993-48ab-9073-5c834c675e69 CLINVAR:483092 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47b99052-aee0-4c67-a47d-b635984e7b58 CLINVAR:55488 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 230efc5c-c5a8-4937-9362-23bd25bd32c5 CLINVAR:55488 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c227fb0-a989-402f-86eb-61d187ed33d3 CLINVAR:206786 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d552a14-a56a-421d-8355-0059b8bf6480 CLINVAR:206786 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2487839-f364-4c88-a197-d63c12d4b40f CLINVAR:206744 biolink:associated_with_increased_likelihood_of MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14e8ced8-1f47-4b4a-be3a-e59786d30663 CLINVAR:206744 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e13467-4a36-4488-a79e-f512b9c046a3 CLINVAR:1000050 biolink:associated_with_increased_likelihood_of MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8322137e-d299-48d7-a868-4189dafb6eb3 CLINVAR:1000050 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7874edcd-7373-4b62-ba83-4dd81a78d0f2 CLINVAR:1008671 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89923c0d-7adf-405a-8186-2881bc9ea60a CLINVAR:1008671 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffc49da2-f322-492e-b462-9990a880976a CLINVAR:68640 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90093880-11e1-42af-aa30-74b4d6266782 CLINVAR:68640 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eabfa413-4de4-4a5c-b689-b90485ae4383 CLINVAR:496120 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7cf3a61-8b1b-41ff-87a0-a8d4d49676bb CLINVAR:496120 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ea9e67-99f9-46d3-a1ba-83860fd495e1 CLINVAR:206974 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33930334-ec50-413c-8962-b2aae5538f24 CLINVAR:206974 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5991aa2-3c48-4a1e-9aa6-c7d19caa94a2 CLINVAR:206975 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e29883fa-d95b-46db-9060-4b225e352105 CLINVAR:206975 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b9bf2bf-0d4c-451c-9794-43b68c983214 CLINVAR:567919 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2af80c19-9247-45d2-935e-46666dc8e2fd CLINVAR:567919 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d613e7de-ab1e-4135-8d93-dd84f9ce9f2f CLINVAR:207018 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8914d981-37c4-4634-a225-7c8fbeabd577 CLINVAR:207018 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37d29af0-74dd-4b92-b18e-22ba35b24842 CLINVAR:870190 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6224decd-fc0b-40cc-8170-fc3f76929792 CLINVAR:870190 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1224b263-3798-425b-ad26-82cb2a8829ee CLINVAR:3343696 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4086d0da-f39c-468a-b71f-9f62df9fe5ec CLINVAR:3343696 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d7ba552-a789-4d0b-8ac5-d9c5a811a8a6 CLINVAR:1335404 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f2cc4bf-29f9-4b38-9039-bc11acf3f4d8 CLINVAR:1335404 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8323c8-6383-4ef4-8d89-a9852e035927 CLINVAR:933619 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54b85b16-8b10-4df7-8886-eb53328c9a31 CLINVAR:933619 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 649bf57e-f34d-4d98-80ab-82f18b371170 CLINVAR:1027500 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6366cfb2-9a8e-4094-a619-bf4a01afe88e CLINVAR:1027500 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ff3afa-a271-48dc-8ec5-b0c9c5d649b5 CAID:CA385223977 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d72d9ae-9956-406f-ab6e-993082522523 CAID:CA385223977 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8117ab0c-2bb7-49b4-aa7d-5a9c6f703038 CAID:CA2499306152 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4eb35999-a20d-437a-8d21-6cb2677a1fa4 CAID:CA2499306152 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73ff2a4-3357-4b73-ace8-2c4dac29d3f5 CLINVAR:99438 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b1245a8-05d0-4400-ba59-73640697d72c CLINVAR:99438 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5cd05a1-2cf0-4042-b285-e181433a2334 CLINVAR:236111 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2fc33aa-b9c7-45f2-a2fa-9d4fbc085ff7 CLINVAR:236111 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99801e6c-aee5-4dde-a8c9-106e18269240 CLINVAR:236096 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5877714-76d5-4204-b4af-4722907250bb CLINVAR:236096 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a17676-f73d-4709-9f11-f73eea7bc895 CLINVAR:92867 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0268a091-e550-4fb6-b8c9-e95a3fe52448 CLINVAR:92867 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f4c8e64-8d5c-44f5-bcb0-d9d7ccd48a56 CLINVAR:99463 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1e58c91-a090-4058-90f0-b26bf1b97936 CLINVAR:99463 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fad3581-d610-49d0-a0b9-9582054e6c27 CLINVAR:99288 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40c85426-4950-4b85-b33a-8cedce61bfe1 CLINVAR:99288 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf5f36f-9f42-4b56-b9da-e82b7d7960c3 CAID:CA645372204 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81c131d6-2daf-4f64-ae3a-d6be02f838f2 CAID:CA645372204 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bd55729-08c4-426e-b2fd-8c9c2c863306 CLINVAR:99096 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 872d0d28-e1b5-40cb-b36a-c0edfd404795 CLINVAR:99096 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5dbe14-4a05-4ea4-b083-0e940a731f42 CLINVAR:99419 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe71849c-3bb0-4c3a-8da6-8b0c7a8ecd8a CLINVAR:99419 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3386ee80-3b0d-4005-b7de-a85757b2b8d8 CLINVAR:438109 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd7ad04c-72fc-49ac-9c15-87323f7a9b07 CLINVAR:438109 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31bd5fca-cb06-4998-927a-44480c357f4a CLINVAR:99114 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21368183-9a77-4109-ba80-898736ca4b28 CLINVAR:99114 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42cf9354-d619-4e1e-ad81-981b8e10f58c CLINVAR:99432 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7c144ca-69a6-46c6-8ac7-2118283639b2 CLINVAR:99432 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 387e1969-32e6-426f-aabc-e2b94f93d6b4 CLINVAR:2919318 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28b297a9-b847-4a72-81b9-e8dc82677164 CLINVAR:2919318 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc716ac-7438-4762-bd0f-ef4db7078974 CLINVAR:1982213 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3506baf-bd21-4093-b42e-f22b0dc44435 CLINVAR:1982213 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 565e20c0-3145-45a0-a09c-9cf698ef9630 CLINVAR:2136526 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1520e639-6330-4c6b-a5ae-d24cd0ab739a CLINVAR:2136526 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8387736e-14fd-44de-8744-78540d4df108 CLINVAR:1200795 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8dab3caa-19fa-434a-9ab6-a6f1a2058059 CLINVAR:1200795 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cde2798-faee-4952-8f52-4cddbacaedd0 CLINVAR:2627074 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 536faa0d-a922-4aaa-b659-0dce9e326e6d CLINVAR:2627074 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8af7794f-6cb4-47d6-976d-11e40842bb64 CLINVAR:1338576 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc6a07bd-1c00-4fa0-9373-359139d933a5 CLINVAR:1338576 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 624a046d-bd48-4b78-8f94-710ebaf432ab CLINVAR:3665734 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e34e2380-82ba-4a2c-97da-1b3b7bc7716b CLINVAR:3665734 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdd8f474-32b2-4537-91a1-6bcd412a0c84 CAID:CA367403356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46060f3c-dbb0-4811-a568-a8c5bdba4fc4 CAID:CA367403356 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53eda78-4c2c-49dd-a479-61b1d360e0f0 CLINVAR:631782 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ff2eeab-9408-4d6b-b9b0-76a2ed8dc645 CLINVAR:631782 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 105ab586-6721-4453-9fbb-57b9d938d221 CAID:CA8328577 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf986349-a09f-42f5-9332-4e7beaf9981e CAID:CA8328577 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7bf5b5c-e1f3-48c6-b733-bf98ef22f246 CLINVAR:372289 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63518176-dfda-4f09-ab1f-12abb174e4e8 CLINVAR:372289 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c81e4f5-877f-4faa-99fa-98bd40deb386 CLINVAR:99263 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21cdfdd8-9340-4ea4-9936-b7814a7ea869 CLINVAR:99263 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84793ff8-5ed1-4587-afcb-d0135ecfabf3 CLINVAR:99065 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3446699e-993b-4855-b190-6f63e23c4cf8 CLINVAR:99065 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f053c69c-d837-42f4-93c6-cc6209059dbc CLINVAR:830061 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9541f398-b569-4f3d-ba1c-7ba42b75f4fb CLINVAR:830061 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d61c700-f6c5-49cf-897a-db2fa1732ca6 CLINVAR:265195 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64d46158-5900-4b13-9bf7-04c2b5b8e017 CLINVAR:265195 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ea20f18-72fc-47e8-8b76-60f36e07bd73 CLINVAR:624613 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4d01a7f-0a90-403c-9256-59ad3d2b7f18 CLINVAR:624613 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 199256c3-ec41-4e2d-a852-b3719797cd51 CLINVAR:803543 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 288e0dab-c45d-45bc-8820-6971c398aeb2 CLINVAR:803543 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0340a0cb-2f72-4b55-8f0d-9868fafac933 CLINVAR:2585303 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e39d160d-7d6d-426f-a97d-66e8016291e5 CLINVAR:2585303 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be228f94-e54a-4ac6-986c-461faa8e2388 CLINVAR:232389 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e330e52c-a29b-4b08-8d60-9eae1fa8923b CLINVAR:232389 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd56a282-989a-4ebd-9199-62b65caaa8eb CLINVAR:1027442 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7137a14e-36f4-441e-9e06-a288b1a62c3b CLINVAR:1027442 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aac18349-6ade-43a1-a1dd-877fb21cc8f5 CLINVAR:1027443 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4cdabd4-cc6d-44de-ae49-77fbd64f69b3 CLINVAR:1027443 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d83ae2-318f-4bdb-a497-34abf942c415 CLINVAR:141634 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1432b379-17a9-4686-9775-25fb16429781 CLINVAR:141634 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9683d659-4244-4230-986c-57ef14d7a572 CLINVAR:478991 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ff47409-f5d5-405e-97c0-69564049df41 CLINVAR:478991 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9109b587-6c65-40cc-8036-a1d6722939c2 CLINVAR:579751 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eae5efcb-bcf3-4e6f-b59b-bec092106aec CLINVAR:579751 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f19b78-58b1-49aa-8a20-d3344d4bf9c4 CLINVAR:186418 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 368674cc-1a42-4060-8b5e-2ad431be65b2 CLINVAR:186418 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ab60815-50e0-4a22-bfca-966c0ec41b0d CAID:CA2695215485 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 780745df-4d30-4404-bc58-9e450d5f0a3d CAID:CA2695215485 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ce24bb5-8542-4d21-af8e-81c07b09a6c7 CLINVAR:825489 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 408c207a-f9d2-4f5e-8634-a511213f7ebc CLINVAR:825489 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e8ced2-9d9f-4e87-b5a2-358e04c55ddd CLINVAR:236760 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b0d364b-1115-455e-b14b-b3a5c89aea4c CLINVAR:236760 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc892478-4916-4180-b5f3-33ee5ee3330f CLINVAR:181989 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58d316e3-8611-45b0-ac6a-801876856a86 CLINVAR:181989 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db8bcab6-ab65-4c5b-9c1f-6190b2f29b7a CLINVAR:1495088 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69218c70-1a6f-42d2-b44f-d93666634a05 CLINVAR:1495088 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 669e4657-e378-42c2-8269-4b57072e8dc1 CAID:CA2695215420 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0336b87e-4fd3-4192-8193-9b28c2bd893f CAID:CA2695215420 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 556104cf-ba81-45fc-94a1-7005710d8dc4 CLINVAR:418777 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9b20135-e4ce-4863-8a1f-e24164a48cc9 CLINVAR:418777 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4133a9c1-da11-4e6f-9cb2-3ed63664ff06 CLINVAR:430406 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6634327c-88e1-4660-b3a9-b7235fed7ce8 CLINVAR:430406 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0afd529-5fa4-4a0a-8f22-5f503e3d7972 CLINVAR:215578 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ccde658-dd97-4ec8-ac92-acdf05baac47 CLINVAR:215578 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86d28ce-b0a7-4cf5-b32f-df739fc39f5d CLINVAR:2496557 biolink:genetically_associated_with MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dcf1f79-5ceb-4a00-9b78-8752fbcc7ad2 CLINVAR:2496557 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a13b261a-50b8-431d-87ec-8a436077e55f CLINVAR:2132009 biolink:associated_with_increased_likelihood_of MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7ef485c-0b4c-44cf-9bec-07afc2bc87c8 CLINVAR:2132009 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27d4927b-bcf5-47cd-b963-9816eaf7fefe CLINVAR:1420224 biolink:genetically_associated_with MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b83f4812-2bd5-4506-98f0-307481f77f56 CLINVAR:1420224 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e419b71-5213-44a2-b377-caa98562495d CLINVAR:3619 biolink:genetically_associated_with MONDO:0018116 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7e9c876-603d-4fdd-9552-1b65b888cc6d CLINVAR:3619 biolink:is_sequence_variant_of HGNC:4135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47a0d355-9ad6-46fa-949a-7402cb2dbe64 CLINVAR:1205648 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a65eb285-e6d5-41e9-8cf9-2738e04ce51f CLINVAR:1205648 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938da116-052e-47cf-9e27-24d8007077db CLINVAR:16167 biolink:causes MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5421d195-6232-483f-9412-a507a09491cd CLINVAR:16167 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f268008d-34c4-49b1-8a71-203f26002738 CLINVAR:16171 biolink:causes MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 192008e9-4816-467d-a301-93ed85ac647f CLINVAR:16171 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b99436b-a4d8-442d-8885-61518e26432f CLINVAR:190366 biolink:genetically_associated_with MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b05c8377-e1e9-4d79-a3bb-afc2c5876a4b CLINVAR:190366 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae127e20-dcd7-4383-8572-1093e7f590ca CLINVAR:190339 biolink:causes MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89e106a3-dd1b-4a90-898e-c32755dc40ee CLINVAR:190339 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0551e590-2dd9-4397-923d-737689f2eaca CLINVAR:2029232 biolink:genetically_associated_with MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 451f733a-96a0-45ba-aa15-bdc15740591d CLINVAR:2029232 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e244e84-4ee9-478b-92ff-ac655de665f4 CLINVAR:66464 biolink:associated_with_increased_likelihood_of MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bac5b74-7dae-4020-8e67-2ed279423b49 CLINVAR:66464 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa498d9-770f-49dd-b87a-f46ce8f0cb0b CLINVAR:3254989 biolink:genetically_associated_with MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ab6f390-5612-4b74-b454-aff7fef5ae8f CLINVAR:3254989 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e3d81e-26a4-41f2-b87b-3b1fc01f25e4 CLINVAR:1810011 biolink:genetically_associated_with MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2d6cb5e-ddaa-43f4-a8e0-3d5c39b2668c CLINVAR:1810011 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb207271-f351-4a3e-8b14-961914bc2d27 CLINVAR:2768154 biolink:genetically_associated_with MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3d96c0d-30ab-4a1d-9a78-846b064e9772 CLINVAR:2768154 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd09fcd-d46a-437f-917f-3ba7dac55937 CLINVAR:2130747 biolink:genetically_associated_with MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1be48320-b342-45ab-b7d1-29217066816a CLINVAR:2130747 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f816409-0c2f-46cc-8926-485fc69b4bde CLINVAR:1969980 biolink:genetically_associated_with MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 469f5c08-49ad-4f8b-9c26-6bb961e4dad1 CLINVAR:1969980 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc661db1-99f1-485b-b557-6eb8892717d1 CLINVAR:1685846 biolink:associated_with_increased_likelihood_of MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3a953ac-3217-446b-a707-610c9060d0c9 CLINVAR:1685846 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26c88682-c402-43c3-ba44-2e40ba0d1d38 CLINVAR:1801329 biolink:genetically_associated_with MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef62a493-8ca7-4034-b074-c2d9bff434f2 CLINVAR:1801329 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ffd037-441e-4313-b837-3f1e2ee13b25 CLINVAR:66484 biolink:causes MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b98f85be-383d-4c4d-8389-358c8765f85a CLINVAR:66484 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d24a27-d011-4a87-ba1b-2567c84b633b CLINVAR:16172 biolink:causes MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f14f44b-6841-4b6e-8c7d-586601c97b1a CLINVAR:16172 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a9fcda9-7513-4142-8025-71daa1868c17 CLINVAR:3767649 biolink:causes MONDO:0008752 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db963236-c253-4042-983e-c507b50256da CLINVAR:3767649 biolink:is_sequence_variant_of HGNC:4235 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 043b0469-2a79-484b-9720-272a91abef87 CLINVAR:550994 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4421b5df-233f-4671-9366-4872108106eb CLINVAR:550994 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a1a0da-03d2-42f4-9f32-fd020c76b664 CLINVAR:13139 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb90f37c-cbe3-4dc7-a9d7-4e9739cf4363 CLINVAR:13139 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecd5fb5e-0d1c-4bec-88cc-c7ad8c541f0f CAID:CA415085440 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bac89363-cc98-416d-ae92-22f34ccff8d7 CAID:CA415085440 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ceb472-b069-4df2-9d27-0eef5c784697 CAID:CA2582122494 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 459343f9-a66a-428a-b320-26eaca9a0628 CAID:CA2582122494 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f43abba-0440-4c70-9205-c7eca5fdb457 CAID:CA397318612 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 070db425-d6d0-4256-9190-b82db394be15 CAID:CA397318612 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37452823-355a-4033-bb74-dc7fcd53e6cf CLINVAR:639 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 667cafbd-33b1-4a61-9c4c-dd5fc6ee7833 CLINVAR:639 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79a4f620-05ed-430f-8605-15be6a7c8590 CLINVAR:2677442 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e7b89fb-de53-4bf4-9bb0-e5891433149a CLINVAR:2677442 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60691114-6532-4376-b749-dffbfdb84455 CAID:CA16020758 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8208e118-379c-4dc5-9cc5-7a5bf4ab001b CAID:CA16020758 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbd21f20-2319-4a44-aa45-053b4f67afb4 CLINVAR:1454323 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32ebb3e2-2cb8-4388-85b7-c7e1c24a1967 CLINVAR:1454323 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f9863a3-3c92-48fb-8b99-7508fc3bc7b5 CLINVAR:4848993 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d79c4343-af0e-45b0-9253-dbd135dac087 CLINVAR:4848993 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ca02ece-05f7-4633-839c-247698e30bae CLINVAR:203573 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f14e821-437b-4188-b35c-edd945714363 CLINVAR:203573 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96e71a68-440c-4893-952f-e4c92e7d3564 CLINVAR:541726 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19ec319d-0ba5-4f37-a9d9-a4de2362079d CLINVAR:541726 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99eec291-1ec6-4eae-8f87-eaac1c92f083 CLINVAR:198026 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c31c4c9-3ab4-48fb-a2d7-d7d20801ed46 CLINVAR:198026 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1490de67-3657-4a62-8092-63576b844efd CLINVAR:99487 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 861e251d-56ac-489f-8b1f-9db079db1175 CLINVAR:99487 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f33ff6-3c98-4f97-81c7-84bbf6222e82 CLINVAR:99117 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07900e61-6870-4405-b83d-5eef21eade8d CLINVAR:99117 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aaabde6-7454-4735-ae42-d9f4e6e286a9 CLINVAR:599103 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f9a878d-434d-4662-896a-a436dc3dff92 CLINVAR:599103 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a26e938f-ca35-4786-8fad-791811e4bef6 CLINVAR:99321 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79df9615-8d2d-432b-b910-c0e8bd63abfb CLINVAR:99321 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7858888-0805-4645-94f9-1f88d1497354 CAID:CA341291298 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 849e125b-348d-418f-a03d-644bd059be8b CAID:CA341291298 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a576ee6-ba09-4cda-a416-e75859fda023 CLINVAR:917611 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96e0fb7f-4591-4a19-88af-176156bb433f CLINVAR:917611 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c181d47c-302f-42bc-a6bd-6ee6e6469bdd CLINVAR:99103 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6911c4eb-e583-4ed4-9746-e56565a2cc11 CLINVAR:99103 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29179a03-44a3-42ff-9143-c0146084d667 CAID:CA2739291993 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9aab825b-dc4e-48b4-b226-d11b779359eb CAID:CA2739291993 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f2b2b8-6b29-49ae-bb55-fc9a45892d3a CLINVAR:99043 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42659625-627b-48ff-bd57-537379296e57 CLINVAR:99043 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b15b18f-9cbc-4d5a-a0fa-c55e16f125ca CLINVAR:7907 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f66fc445-b180-4b32-89a4-bbcfb9d5f3b6 CLINVAR:7907 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79c19432-5614-4c39-9024-dcf908d36e33 CAID:CA341290556 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebe9fb91-ab04-4950-b39c-f3e22dc448e2 CAID:CA341290556 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6239da12-4d17-400d-98ec-c33aafef8fce CLINVAR:288341 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19d6d872-a5d5-42e4-8e62-9a588e926398 CLINVAR:288341 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d75a677e-7a5c-49c2-b092-2208792b4891 CLINVAR:1013243 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 092081cc-dd00-4e07-b783-19d09a92f402 CLINVAR:1013243 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9763dc7-118b-4c23-be5e-1ed666ecaae7 CLINVAR:2203049 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 664f9cc7-eb58-4957-9fe3-88220cefc55b CLINVAR:2203049 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 109e42dc-a29e-426c-aaa7-fe2258458e18 CLINVAR:182082 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b074ceae-16ea-4596-a34d-38c12d3b2ee6 CLINVAR:182082 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bd58af0-c32f-406f-9df1-9d68c9f8d7e7 CLINVAR:462411 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d7da0c3-15ef-4783-a935-f39312d85c73 CLINVAR:462411 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4331139-baee-4df1-9bd1-d30d67f99546 CLINVAR:231552 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bf54641-c9de-4177-af19-93653ccde4a2 CLINVAR:231552 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367d953e-19ed-405a-8f44-9a476cdd2182 CLINVAR:37667 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 046f412a-58a1-48a9-8d9c-35ba80fec918 CLINVAR:37667 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 809934b3-bb6a-4773-908a-04d71822d32a CLINVAR:867727 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e802c61d-5da3-4dad-8a24-676a755faed3 CLINVAR:867727 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529c1813-881c-4a75-ad77-413ee75ff9a1 CLINVAR:825830 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2180f6c3-c9d4-4b8d-984f-e5913b2668ae CLINVAR:825830 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5e72a2-a23d-44d2-9733-26d5be2d9b91 CLINVAR:125900 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc45fb52-080d-4dc3-822f-76de835a9c75 CLINVAR:125900 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eddfffa4-13ed-4dce-86dd-184520b36697 CLINVAR:55507 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57cb84fa-b507-4cdd-b1aa-b3a11b5586d1 CLINVAR:55507 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b2d7e3e-12e7-4d5b-a9b7-d9c34002efc1 CLINVAR:230061 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60155f5f-9454-4117-81e5-30ff6880bb92 CLINVAR:230061 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 652530e4-2e9e-47fb-9378-d74703e9cc9d CLINVAR:496397 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cb2a086-35a2-4979-a41c-5d667c578abb CLINVAR:496397 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24c16076-837b-4033-997a-7bc2f3965207 CLINVAR:267609 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 355ae787-5ea0-4f8f-a070-6f7d72b5d5fd CLINVAR:267609 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50394e01-9a31-4c42-b5fc-c84a62128e26 CLINVAR:936933 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9219509f-181d-4e93-9950-e0d981ce20ab CLINVAR:936933 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d829859-dd53-4b8b-8c84-da0f58113eba CLINVAR:1366551 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 693faee9-9275-4408-9247-3558df2d65c7 CLINVAR:1366551 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85df03d5-bee0-4db6-b998-350ca72d48c1 CLINVAR:439385 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efe511c2-ddb7-4afb-851b-6e96d22bded3 CLINVAR:439385 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa0f79e-bec5-4f3a-8459-f10ba21b26d7 CLINVAR:1762627 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1b3fe06-fc37-43bb-8efc-9891c6035c29 CLINVAR:1762627 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0519f847-8090-47c2-a210-513d98b637bb CLINVAR:3574932 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c89be3a3-332d-4175-8883-61aa34fc7eba CLINVAR:3574932 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cff0e514-df6d-4d82-a761-cf8fbf863312 CLINVAR:1782310 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9d5c8cc-5a71-4d6b-9674-6b4038bbbc51 CLINVAR:1782310 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9196f819-ec37-4954-b766-feb29f040c26 CLINVAR:1766194 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36824d25-17de-43c6-b5ce-7509204b92df CLINVAR:1766194 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen